1:27087549-27087549 A > C

Classification

Category 5 curation
CMH MAF 13 / 13144 samples (0.0989%)
13 het., 0 hom. (100%)
13 / 26288 total alleles (0.0495%)

gene: ARID1A synonym(s): B120, BAF250, BAF250a, BM029, C1orf4, ELD, hELD, hOSA1, MRD14, OSA1, P270, SMARCF1, ARID1A, ENSG00000117713

OMIM
OMIM:603024: ARID1A (Autosomal dominant inheritance)
OMIM:614607: Coffin-Siris syndrome 2

NM_006015.4 [CDS]
hgvs_c: NM_006015.4:c.2123A>C
reference AA: Q
variant AA: P
reference codon: cAg
variant codon: cCg
cDNA pos: 2496
CDS pos: 2123
translation impact: non_synonymous
protein sequence: NP_006006.3
AA pos: 708
hgvs_p: NP_006006.3:p.Gln708Pro
blosum: -1
PolyPhen2: unknown (0.0)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

rs367889013
GMAF = 0.004593
TOPMED_MAF = 0.00007963812436289

133556
clinvar_significance = Benign_Likely_benign

ExAC South Asian, (383 / 16508), 2.32%
COSMIC Mutation ID = COSV61370689
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD South Asian, (773 / 30616), 2.52% curated_classification = 5