Classification
Category 4
curation
CMH MAF
57 /
13144 samples
(0.434%)
55 het.,
2 hom.
(96.5%)
59 /
26288 total alleles
(0.224%)
Genes
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