13:32937506-32937506 G > C

Classification

Category 1
CMH MAF 4 / 13144 samples (0.0304%)
4 het., 0 hom. (100%)
4 / 26288 total alleles (0.0152%)

gene: BRCA2 synonym(s): BRCC2, BROVCA2, FACD, FAD, FAD1, FANCB, FANCD, FANCD1, GLM3, PNCA2, BRCA2, ENSG00000139618

OMIM
OMIM:600185: BRCA2 (Autosomal recessive inheritance)
OMIM:605724: Fanconi anemia, complementation group D1
OMIM:194070: Wilms tumor
OMIM:114480: {Breast cancer, male, susceptibility to}
OMIM:612555: {Breast-ovarian cancer, familial, 2}
OMIM:613029: {Glioblastoma 3}
OMIM:155255: {Medulloblastoma}
OMIM:613347: {Pancreatic cancer 2}
OMIM:176807: {Prostate cancer}

ENST00000380152.3 [CDS]
hgvs_c: ENST00000380152.3:c.8167G>C
reference AA: D
variant AA: H
reference codon: Gat
variant codon: Cat
cDNA pos: 8400
CDS pos: 8167
translation impact: non_synonymous
protein sequence: ENSP00000369497.3
AA pos: 2723
hgvs_p: ENSP00000369497.3:p.Asp2723His
blosum: -1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)

rs41293511
TOPMED_MAF = 0.00000796381243628