Classification
Category 4
curation
CMH MAF
53 /
13144 samples
(0.403%)
53 het.,
0 hom.
(100%)
53 /
26288 total alleles
(0.202%)
Genes
gene: EMC1
synonym(s): KIAA0090, RP1-43E13.1, EMC1, ENSG00000127463
NM_001271427.1
[CDS]
hgvs_c: NM_001271427.1:c.719C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 769
CDS pos: 719
translation impact: non_synonymous
protein sequence:
NP_001258356.1
AA pos: 240
hgvs_p: NP_001258356.1:p.Pro240Leu
blosum: -3
SIFT: tolerated (0.21)
PolyPhen2: benign (0.017)
NM_001271428.1
[CDS]
hgvs_c: NM_001271428.1:c.719C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 769
CDS pos: 719
translation impact: non_synonymous
protein sequence:
NP_001258357.1
AA pos: 240
hgvs_p: NP_001258357.1:p.Pro240Leu
blosum: -3
NM_001271429.1
[CDS]
hgvs_c: NM_001271429.1:c.653C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 703
CDS pos: 653
translation impact: non_synonymous
protein sequence:
NP_001258358.1
AA pos: 218
hgvs_p: NP_001258358.1:p.Pro218Leu
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: benign (0.017)
NM_015047.2
[CDS]
Reportable
hgvs_c: NM_015047.2:c.719C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 769
CDS pos: 719
translation impact: non_synonymous
protein sequence:
NP_055862.1
AA pos: 240
hgvs_p: NP_055862.1:p.Pro240Leu
blosum: -3
SIFT: tolerated (0.21)
PolyPhen2: benign (0.029)
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
dbSNP
rs141614470
GMAF = 0.004992
TOPMED_MAF = 0.00524018858307849
ClinVar
446000
clinvar_significance = Likely_benign
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000465,0.012483,0.004536
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
128 / 10398 |
1.23% |
| America/Latino |
71 / 11578 |
0.613% |
| East Asian |
0 / 8648 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
59 / 66708 |
0.0884% |
| Other |
7 / 904 |
0.774% |
| South Asian |
2 / 16512 |
0.0121% |
| Total MAF |
267 / 121362 |
0.22% |
COSMIC
COSMIC Mutation ID = COSV61886971
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
328 / 24968 |
1.31% |
| America/Latino |
147 / 35440 |
0.415% |
| Ashkenazi Jewish |
2 / 10368 |
0.0193% |
| East Asian |
0 / 19952 |
0% |
| Finnish |
0 / 25122 |
0% |
| Non-Finnish |
101 / 129146 |
0.0782% |
| Other |
47 / 7226 |
0.65% |
| South Asian |
6 / 30616 |
0.0196% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14422 |
0% |
| Bulgarian |
2 / 2670 |
0.0749% |
| Estonian |
0 / 4836 |
0% |
| North-Western European |
34 / 50800 |
0.0669% |
| Southern European |
37 / 11608 |
0.319% |
| Swedish |
2 / 26130 |
0.00765% |
| Other non-Finnish European |
26 / 33102 |
0.0785% |
| Total MAF |
631 / 282838 |
0.223% |
curated_classification = 4
Export Variant