Classification
Category 4
non_synonymous
CMH MAF
37 /
9594 samples
(0.386%)
37 het.,
0 hom.
(100%)
37 /
19188 total alleles
(0.193%)
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 = COSM6653583
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
320 / 24032 |
1.33% |
| America/Latino |
138 / 34420 |
0.401% |
| Ashkenazi Jewish |
1 / 10150 |
0.00985% |
| East Asian |
0 / 18868 |
0% |
| Finnish |
1 / 25794 |
0.00388% |
| Non-Finnish |
94 / 126700 |
0.0742% |
| Other |
42 / 6466 |
0.65% |
| South Asian |
6 / 30782 |
0.0195% |
| Total MAF |
602 / 277212 |
0.217% |
Export Variant