1:7724562-7724562 C > T

Classification

Category 4

curation

CMH MAF

57 / 13144 samples (0.434%)
55 het., 2 hom. (96.5%)
59 / 26288 total alleles (0.224%)

Genes

Consequences
gene: CAMTA1 synonym(s): CANPMR, CAMTA1, ENSG00000171735

NM_015215.2 [CDS] Reportable
hgvs_c: NM_015215.2:c.1955C>T
reference AA: S
variant AA: L
reference codon: tCg
variant codon: tTg
cDNA pos: 2162
CDS pos: 1955
translation impact: non_synonymous
protein sequence: NP_056030.1
AA pos: 652
hgvs_p: NP_056030.1:p.Ser652Leu
blosum: -2
SIFT: deleterious_low_confidence (0.02)
PolyPhen2: benign (0.364)

dbSNP

rs144242373
GMAF = 0.001198
TOPMED_MAF = 0.00155294342507645

ClinVar

377146
clinvar_significance = Likely_benign

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.001395,0.000454,0.001076

ExAC

ExAC
Ethnicity Count / Number MAF
African 2 / 10028 0.0199%
America/Latino 15 / 11538 0.13%
East Asian 0 / 8588 0%
Finnish 0 / 6614 0%
Non-Finnish 136 / 65314 0.208%
Other 1 / 892 0.112%
South Asian 0 / 16466 0%
Total MAF 154 / 119440 0.129%

COSMIC

COSMIC Mutation ID = COSV57893878
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 3 / 24804 0.0121%
America/Latino 51 / 35418 0.144%
Ashkenazi Jewish 1 / 10340 0.00967%
East Asian 0 / 19914 0%
Finnish 2 / 25118 0.00796%
Non-Finnish 285 / 128170 0.222%
Other 14 / 7206 0.194%
South Asian 0 / 30596 0%
Korean 0 / 3818 0%
Japanese 0 / 150 0%
Other East Asian 0 / 14390 0%
Bulgarian 13 / 2378 0.547%
Estonian 8 / 4802 0.167%
North-Western European 116 / 50568 0.229%
Southern European 31 / 11572 0.268%
Swedish 27 / 26110 0.103%
Other non-Finnish European 90 / 32740 0.275%
Total MAF 356 / 281566 0.126%

curated_classification = 4

Export Variant

Curation

Likely Benign