1:19566858-19566858 G > A

Classification

Category 4

curation

CMH MAF

53 / 13144 samples (0.403%)
53 het., 0 hom. (100%)
53 / 26288 total alleles (0.202%)

Genes

Consequences
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

Curation

Likely Benign