1:11736959-11736959 C > T

Classification

Category 3

non_synonymous

CMH MAF

10 / 13105 samples (0.0763%)
10 het., 0 hom. (100%)
10 / 26210 total alleles (0.0382%)

Genes

Consequences
gene: MAD2L2 synonym(s): MAD2B, POLZ2, REV7, MAD2L2, ENSG00000116670

NM_001127325.1 [CDS] Reportable
hgvs_c: NM_001127325.1:c.278G>A
reference AA: R
variant AA: H
reference codon: cGc
variant codon: cAc
cDNA pos: 499
CDS pos: 278
translation impact: non_synonymous
protein sequence: NP_001120797.1
AA pos: 93
hgvs_p: NP_001120797.1:p.Arg93His
blosum: 0
SIFT: tolerated (0.21)
PolyPhen2: benign (0.002)

NM_006341.3 [CDS]
hgvs_c: NM_006341.3:c.278G>A
reference AA: R
variant AA: H
reference codon: cGc
variant codon: cAc
cDNA pos: 466
CDS pos: 278
translation impact: non_synonymous
protein sequence: NP_006332.3
AA pos: 93
hgvs_p: NP_006332.3:p.Arg93His
blosum: 0
SIFT: tolerated (0.21)
PolyPhen2: benign (0.002)

dbSNP

rs151024263
GMAF = 0.000599
TOPMED_MAF = 0.00109104230377166

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.000000,0.004085,0.001384

ExAC

ExAC
Ethnicity Count / Number MAF
African 36 / 10354 0.348%
America/Latino 5 / 11548 0.0433%
East Asian 0 / 8646 0%
Finnish 0 / 6610 0%
Non-Finnish 3 / 66448 0.00451%
Other 0 / 906 0%
South Asian 0 / 16496 0%
Total MAF 44 / 121008 0.0364%

COSMIC

COSMIC Mutation ID = COSV52416439
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 76 / 24938 0.305%
America/Latino 23 / 35416 0.0649%
Ashkenazi Jewish 0 / 10362 0%
East Asian 0 / 19952 0%
Finnish 0 / 25122 0%
Non-Finnish 13 / 129044 0.0101%
Other 1 / 7222 0.0138%
South Asian 0 / 30614 0%
Korean 0 / 3818 0%
Japanese 0 / 152 0%
Other East Asian 0 / 14424 0%
Bulgarian 0 / 2670 0%
Estonian 0 / 4818 0%
North-Western European 12 / 50758 0.0236%
Southern European 0 / 11602 0%
Swedish 1 / 26126 0.00383%
Other non-Finnish European 0 / 33070 0%
Total MAF 113 / 282670 0.04%


Export Variant

Curation

Uncertain Significance