Classification
Category 4
non_synonymous
CMH MAF
40 /
6955 samples
(0.575%)
39 het.,
1 hom.
(97.5%)
41 /
13910 total alleles
(0.295%)
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
clinvar_submission_scv = SCV000511356.1
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 = COSM5434531
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
3 / 23896 |
0.0126% |
| America/Latino |
51 / 34406 |
0.148% |
| Ashkenazi Jewish |
2 / 10124 |
0.0198% |
| East Asian |
0 / 18832 |
0% |
| Finnish |
2 / 25792 |
0.00775% |
| Non-Finnish |
282 / 125848 |
0.224% |
| Other |
10 / 6454 |
0.155% |
| South Asian |
0 / 30764 |
0% |
| Total MAF |
350 / 276116 |
0.127% |
Export Variant