11:108138045-108138045 C > T

Classification

Category 5 curation
CMH MAF 93 / 14969 samples (0.621%)
92 het., 1 hom. (98.9%)
94 / 29938 total alleles (0.314%)

gene: ATM synonym(s): AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1, ATM, ENSG00000149311

OMIM
OMIM:607585: ATM (Autosomal recessive inheritance)
OMIM:208900: Ataxia-telangiectasia
OMIM:114480: {Breast cancer, susceptibility to}

ENST00000278616.4 [CDS]
hgvs_c: ENST00000278616.4:c.2614C>T
reference AA: P
variant AA: S
reference codon: Cct
variant codon: Tct
cDNA pos: 2999
CDS pos: 2614
translation impact: non_synonymous
protein sequence: ENSP00000278616.4
AA pos: 872
hgvs_p: ENSP00000278616.4:p.Pro872Ser
blosum: -1
SIFT: tolerated (1.0)
PolyPhen2: benign (0.0)

rs3218673
GMAF = 0.01637
TOPMED_MAF = 0.01436671763506625

133610
clinvar_significance = Benign_Likely_benign
clinvar_disease = Ataxia-telangiectasia syndrome
clinvar_disease = Hereditary cancer-predisposing syndrome

EVS
EVS MAF (European American/African American/All) = 0.000116,0.047024,0.016002

ExAC African, (531 / 10398), 5.11%
COSMIC Mutation ID = COSV53733521
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD African, (1139 / 24954), 4.56% curated_classification = 5