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SAMD9

(NM_001193307.1, NP_001180236.1)

Genomic position (GRCh37) cDNA Exchange Amino Acid Exchange Revertant Somatic Events (Allelic configuration to germline SAMD9 mutation) Mutation Effect Mutation Origin Zygosity Conservation CADD Score (GRCh37-v1.4) gnomAD v2.1.1 MAF% (webpage URL) Functional Assay Published
92734035 c.1376G>A p.R459Q del7/(7q) Missense Germline (de novo) Heterozygous Moderate 18.54 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/27182967


ncbi.nlm.nih.gov
/pubmed/28346228
92734005 c.1406A>G p.Y469C del7/(7q) Missense Germline (de novo) Heterozygous Moderate 18.8 Novel n.d. ncbi.nlm.nih.gov
/pubmed/29146883
92734005 c.1406A>C p.Y469S del7/(7q) Missense n.d. (VAF~50%) Heterozygous Moderate 14.73 Novel n.d. ncbi.nlm.nih.gov
/pubmed/29146883
92733964 c.1447C> G p.L483V del7/(7q) Missense Germline (Inherited) Compound heterozygous Moderate 23.1 Novel n.d. ncbi.nlm.nih.gov
/pubmed/31900929
92733489 c.1922T>C  p.L641P del7/(7q), UPD7q Missense Germline (de novo) Heterozygous Moderate 25.5 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/30565860
92733385 c.2026A>G p.K676E del7/(7q) Missense Germline Heterozygous Moderate 16.18 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/30046003
92733357 c.2054G>A p.R685Q del7/(7q) Missense Germline (de novo) Heterozygous High 24.8 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/28346228
92733246 c.2165C>A p.A722E SAMD9 p.R695X Missense Germline (de novo) Heterozygous Weak 15.43 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/29175836
92733229 c.2182A>G p.T728A del7/(7q) Missense n.d. (VAF~50%) Heterozygous Moderate 0.049 Novel n.d. ncbi.nlm.nih.gov
/pubmed/29146883
92733106 c.2305G>A p.D769N del7/(7q) Missense Germline (suspected germline mosaicism) Heterozygous Moderate 24.1 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/27182967
92733105  c.2306A>G p.D769G SAMD9 p.Q39X Missense Germline (de novo) Heterozygous Moderate 24.7 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/29175836
92733093 c.2318T>C p.I773T del7/(7q) Missense n.d. Heterozygous Moderate 25 Novel n.d. ncbi.nlm.nih.gov
/pubmed/30900330
92733085 c.2326C>A p.Q776K del7/(7q) Missense Germline (patient fibroblast) Heterozygous Moderate 24.9 Novel n.d. ncbi.nlm.nih.gov
/pubmed/29146883
92733078 c.2333C>T p.T778I del7/(7q) Missense Germline (Patient lymphocytes) Heterozygous High 11.85 Novel Inhibition of HEK293T proliferation, cell cyle and ERK phosporylation ncbi.nlm.nih.gov
/pubmed/29146900
SAMD9 p.R221X
SAMD9 p.R285X
Germline (Inherited) Heterozygous High 15.18 Novel n.d. ncbi.nlm.nih.gov
/pubmed/31572304
92733004 c.2407G>C p.E803Q del7/(7q) Missense Germline (de novo) Heterozygous Moderate 23.5 Novel n.d. ncbi.nlm.nih.gov
/pubmed/31306780
92732949 c.2462A>T p.K821M No Missense Germline (de novo) Heterozygous Moderate 22.8 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/29365320


ncbi.nlm.nih.gov
/pubmed/32106287
92732940 c.2471G>A p.R824Q del7/(7q) Missense Germline (de novo) Heterozygous Moderate 17.32 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/29266745


ncbi.nlm.nih.gov
/pubmed/31306780


ncbi.nlm.nih.gov
/pubmed/31620126
92732911 c.2500A>T p.N834Y No Missense n.d. (VAF~50%) Heterozygous Moderate 26.3 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/27182967
92732720 c.2691A>G p.I897M del7/(7q) Missense Germline Heterozygous Moderate 21.7 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/28834235
92732491 c.2920G>A p.E974K No Missense Germline (de novo) Heterozygous High 24.4 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/27182967


ncbi.nlm.nih.gov
/pubmed/31208161


ncbi.nlm.nih.gov
/pubmed/31638924
92732466 c.2945G>A p.R982H No Missense Germline (de novo) Heterozygous High 21.8 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/28346228


ncbi.nlm.nih.gov
/pubmed/32106287
92732467 c.2944C>T p.R982C del7/(7q)
SAMD9 p.K27X (cis)
SAMD9 p.R1533X (cis)
Missense Germline (de novo) Heterozygous High 20.2 MAF 0.00039%
gnomad.broadinstitute.org/
variant/7-92732467-G-A?dataset=gnomad_r2_1
Decreased HEK293 proliferation
9p.K27X rescues growth restrictive phenotype of 9p.R982C
9p.R1533X rescues growth restrictive phenotype of 9p.R982C
ncbi.nlm.nih.gov
/pubmed/28346228


ncbi.nlm.nih.gov
/pubmed/29506479
92732463 c.2948T>G p.I983S del7/(7q)
SAMD9 p.N765TfsX13 (cis)
Missense n.d. (VAF~50%) Heterozygous High 24.7 Novel Decreased HEK293 proliferation
9p.N765TfsX13 rescues growth restrictive phenotype of 9p.I983S
ncbi.nlm.nih.gov
/pubmed/28346228
92732464 c.2947A>G p.I983V del7/(7q) Missense Germline (de novo) Heterozygous High 16.93 Novel n.d. ncbi.nlm.nih.gov
/pubmed/29146883
92732454 c.2957C> G p.S986C     Germline (de novo)   Moderate 19.81 Novel n.d.  
92732362 c.3049T>G p.F1017V No Missense n.d. (VAF~50%) Heterozygous High 17.9 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/30403727
92732005 c.3406G>C p.E1136Q del7/(7q)
SAMD9 p.R221X
SAMD9 p.F583I
Missense Germline (Inherited) Heterozygous Weak 16.08 Novel Inhibition of ERK phosphorylation ncbi.nlm.nih.gov
/pubmed/28487541
92731849 c.3558_3562del p.K1186fsX2 No Frameshift Germline Heterozygous n.d. n.a. Novel n.d. ncbi.nlm.nih.gov
/pubmed/29146883
92731827 c.3584C>T p.A1195V No Missense n.d. (VAF~50%) Heterozygous Moderate 24.8 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/27182967
92731572 c.3839C>T p.P1280L No Missense Germline (de novo) Heterozygous Moderate 16.18 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/27182967
92731555 c.3856C>A p.Q1286K No Missense Germline (de novo) Heterozygous Moderate 18.61 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/27182967
92731534 c.3877C>T p.R1293W del7/(7q) Missense Germline (de novo) Heterozygous Moderate 16.21 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/27182967
92731533 c.3878G>A p.R1293Q del7/(7q) Missense Germline (de novo) Heterozygous Moderate 13.86 Novel Decreased HEK293 proliferation ncbi.nlm.nih.gov
/pubmed/29266745


ncbi.nlm.nih.gov
/pubmed/28346228
92730976 c.4435G>T p.A1479S No Missense Germline (de novo) Heterozygous High 15.84 Novel n.d. ncbi.nlm.nih.gov
/pubmed/32194975
92730928/ 92734381 c.4483A>G/ c.1030C>T p.K1495E/ p.R344X No Missense/Nonsense Germline (Consanguinity) Compound heterozygous Moderate 23.4 Novel n.d. ncbi.nlm.nih.gov
/pubmed/18094730
92730928 c.4483A>G p.K1495E No Missense Germline (Consanguinity) Homozygous Moderate 23.4 Novel n.d. ncbi.nlm.nih.gov
/pubmed/16960814
92730721 c.4690G>A p.G1564S del7/(7q) Missense Germline (de novo) Heterozygous Moderate 27.3 Novel n.d. ncbi.nlm.nih.gov
/pubmed/29146900
92730704 c.4707G>T p.K1569N del7/(7q)
SAMD9 p.R344X (cis)
Missense Germline (de novo) Heterozygous Weak 15.15 Novel Decreased HEK293 proliferation
9p.R344X rescues growth restrictive phenotype of 9p.K1569N
ncbi.nlm.nih.gov
/pubmed/28346228
CADD; Combined Annotation Dependent Depletion (PMID: 24487276), del; deletion, UPD; uniparental disomy, LCL; lymphoblastic cell lines, n.d.; not done, n.a.; not available

 


SAMD9L

(NM_001303500.1, NP_689916.2)

Genomic position (GRCh37) cDNA Exchange Amino Acid Exchange Revertant Somatic Events (Allelic configuration to germline SAMD9 mutation) Mutation Effect Mutation Origin Zygosity Aminoacid Conservation CADD Score (GRCh37-v1.4) gnomAD v2.1.1 MAF% (webpage URL) Functional Assay Published
92763736 c.1549T>C p.W517R None Misense Germline (Inherited) Heterozygous High 25.1 MAF 0.03%
gnomad.broadinstitute.org
/variant/7-92763736-A-G?dataset=gnomad_r2_1
No effect on HEK293T proliferation ncbi.nlm.nih.gov/
pubmed/30322869
92763408 c.1877C>T p.S626L del7 Missense Germline (parents not tested, maternal aunt positive) Heterozygous Moderate 23.3 Novel Inhibition of HEK293T proliferation, cell cyle and ERK phosporylation ncbi.nlm.nih.gov/
pubmed/29146900


ncbi.nlm.nih.gov/
pubmed/31306780
92762766 c.2519T>A p.M840K del7 Missense Germline (de novo) Heterozygous High 22.8 Novel n.d. ncbi.nlm.nih.gov/
pubmed/29146883
92762659 c.2626delA p.I876LfsX15 None Frameshift truncating Germline (de novo) Heterozygous n.a.   Novel Decreased HEK293FT proliferation (unpublished) ncbi.nlm.nih.gov/
pubmed/31874111
92762652 c.2633delA p.K878SfsX13 None Frameshift truncating Germline (de novo) Heterozygous n.a.   Novel Decreased HEK293FT proliferation (unpublished) ncbi.nlm.nih.gov/
pubmed/31874111
92762645 c.2640C>A p.H880Q del7, UPD7q
SAMD9L p.Q569P (cis)
Misense Germline (Inherited) Heterozygous Moderate 22.5 Novel Loss of mutant allele by UPD7q in LCLs
9Lp.Q569P partially rescues growth restrictive phenotype of 9Lp.H880Q
ncbi.nlm.nih.gov/
pubmed/27259050


ncbi.nlm.nih.gov/
pubmed/30046003
92762626_
92762627del
c.2658_2659delTT p.F886LfsX11 None Frameshift truncating Germline (de novo) Heterozygous n.a.   Novel Decreased HEK293FT proliferation (unpublished) ncbi.nlm.nih.gov/
pubmed/31874111
92762619 c.2666delT p.F889SfsX2 None Frameshift truncating Germline (de novo) Heterozygous n.a.   Novel Decreased HEK293FT proliferation (unpublished) ncbi.nlm.nih.gov/
pubmed/31874111
92762613 c.2672T>C  p.I891T del7, UPD7q Missense Germline (Inherited) Heterozygous High 26.7 Novel Decreased HEK293FT proliferation ncbi.nlm.nih.gov/
pubmed/28202457
92762599 c.2686T>G p.F896V None Missense Germline (de novo) Heterozygous High 25 Novel n.d. ncbi.nlm.nih.gov/
pubmed/31053103
92762433 c.2852_2853insACAC p.T951fsX None Frameshift Insertion n.d. Heterozygous n.a. n.a. Novel n.d. ncbi.nlm.nih.gov/
pubmed/29146883
92762329 c.2956C>T p.R986C del7/(7q), UPD7q
SAMD9L p.T233N (trans)
SAMD9L p.E276X
SAMD9L p.R1524H (cis)
SAMD9L p.F1092L
SAMD9L p.R223X (cis)
SAMD9L p.R843W (cis)
SAMD9L p.Y568C
Misense Germline (Inherited) Heterozygous High 16.25 Novel Decreased HEK293FT proliferation
9Lp.T233N escues growth restrcitive phenotype of 9Lp.R986C
ncbi.nlm.nih.gov/
pubmed/29146883


ncbi.nlm.nih.gov/
pubmed/29217778


ncbi.nlm.nih.gov/
pubmed/28202457


ncbi.nlm.nih.gov/
pubmed/30046003
92762328 c.2957G>A p.R986H del7, UPD7q Missense Germline (Inherited) Heterozygous High 24.6 MAF 0.002%
gnomad.broadinstitute.org/
variant/7-92762328-C-T?dataset=gnomad_r2_1
Decreased HEK293FT proliferation
Inhibition of HEK293T cell cyle
ncbi.nlm.nih.gov/
pubmed/29217778


ncbi.nlm.nih.gov/
pubmed/31306780
92762185 c.3100G>T p.D1034Y None Missense Germline (patient fibroblast) Heterozygous Moderate 25 Novel n.d. ncbi.nlm.nih.gov/
pubmed/29146883
92761858 c.3427A>G p.S1143G del7 Missense n.d. Heterozygous Moderate 1.557 MAF 0.0012%
gnomad.broadinstitute.org/
variant/7-92761858-T-C?dataset=gnomad_r2_1
n.d. ncbi.nlm.nih.gov/
pubmed/29146883
92761747 c.3538T>C p.W1180R del7 Missense n.d. Heterozygous Moderate 12.68 Novel Inhibition of HEK293T proliferation, cell cyle and ERK phosporylation ncbi.nlm.nih.gov/
pubmed/29146900


ncbi.nlm.nih.gov/
pubmed/31306780
92761843 c.3442G>C p.D1184H del7 Missense Germline (Inherited) Heterozygous Moderate 21.4 Novel n.d. ncbi.nlm.nih.gov/
pubmed/29146883
92761699 c.3586T>A p.C1196S None Missense Germline (Inherited) Heterozygous Weak 21.9 Novel n.d. ncbi.nlm.nih.gov/
pubmed/27259050
92761443 c.3842G>A p.R1281K del7/(7q), UPD7q
SAMD9L p.R70C
SAMD9L p.A280T
SAMD9L p.R359Q
SAMD9L p.F1092V
SAMD9L p.D1171N (cis)
SAMD9L p.R986L
SAMD9L p.V19E
SAMD9L p.E562K
SAMD9L p.T1122S
SAMD9L p.S1379P
SAMD9L p.R843W
SAMD9L p.T1053I (trans)
SAMD9L p.V361fs
SAMD9L p.Y384X
SAMD9L p.R5989X
Missense Germline (Inherited) Heterozygous Moderate 14.69 Novel Decreased HEK293T proliferation
Inhibition of HEK293T cell cyle and ERK phosporylation
ncbi.nlm.nih.gov/
pubmed/29146900


ncbi.nlm.nih.gov/
pubmed/30046003
92760867 c.4418G>A p.S1473N UPD7q
SAMD9L p.S608TfsX6 (cis)
SAMD9L p.E461VfsX43
Missense Germline (Inherited) Heterozygous Moderate 20.9 Novel n.d. ncbi.nlm.nih.gov/
pubmed/30923096
92760808 c.4477A>G p.I1493V del7 Missense Germline (Inherited) Heterozygous Moderate 14.5 Novel n.d. ncbi.nlm.nih.gov/
pubmed/29146883
92760751 c.4534G>A p.V1512M SAMD9L p.R1188X (cis)
del7, UPD7q
Missense Germline (Inherited) Heterozygous Moderate 24 Novel Decreased HEK293FT proliferation ncbi.nlm.nih.gov/
pubmed/29217778
92760750 c.4535T>C p.V1512A del7q, UPD7q
SAMD9L p.Q708X
SAMD9L p.K1265N
SAMD9L p.L409fs
Missense Germline (no info on inheritance) Heterozygous Moderate 21 Novel Inhibition of HEK293T cell cyle ncbi.nlm.nih.gov/
pubmed/30046003
92760724 c.4561C>G p.L1521V del7 Missense Germline (Consanguinity) Heterozygous Moderate 12.1 MAF 0.0032%
gnomad.broadinstitute.org/
variant/7-92760724-G-C?dataset=gnomad_r2_1
n.d. ncbi.nlm.nih.gov/
pubmed/29146883
92760637 c.4648T>C p.S1550P None Missense n.d. Heterozygous Moderate 9.916 Novel n.d. ncbi.nlm.nih.gov/
pubmed/29146883
92760634 c.4651G>C p.V1551L del7 Missense Germline (de novo) Heterozygous   14.51 Novel Inhibition of HEK293T cell cyle ncbi.nlm.nih.gov/
pubmed/31306780

CADD; Combined Annotation Dependent Depletion (PMID: 24487276), del; deletion, UPD; uniparental disomy, LCL; lymphoblastic cell lines, n.d.; not done, n.a.; not available



Last updated on December 3rd, 2020 | Contact us