1:21554554-21554554 A > C

Classification

Category 4

three_prime_flank

CMH MAF

100 / 6917 samples (1.45%)
100 het., 0 hom. (100%)
100 / 13834 total alleles (0.723%)

Genes

Consequences
gene: ECE1 synonym(s): ECE, ECE1, ENSG00000117298

NM_001113347.1 [intron]
hgvs_c: NM_001113347.1:c.1635-20T>G
splice impact: three_prime_flank
protein sequence: NP_001106818.1

NM_001113348.1 [intron]
hgvs_c: NM_001113348.1:c.1623-20T>G
protein sequence: NP_001106819.1

NM_001113349.1 [intron]
hgvs_c: NM_001113349.1:c.1662-20T>G
protein sequence: NP_001106820.1

NM_001397.2 [intron] Reportable
hgvs_c: NM_001397.2:c.1671-20T>G
protein sequence: NP_001388.1

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron] Reportable

dbSNP

rs886038483
rs190487320
GMAF = 0.001597
TOPMED_MAF = 0.00537557339449541

ClinVar

258086
clinvar_significance = Likely_benign

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.002577,0.001143,0.002091

ExAC

ExAC
Ethnicity Count / Number MAF
African 3 / 2862 0.105%
America/Latino 3 / 436 0.688%
East Asian 0 / 768 0%
Finnish 0 / 88 0%
Non-Finnish 82 / 9636 0.851%
Other 0 / 202 0%
South Asian 11 / 7582 0.145%
Total MAF 99 / 21574 0.459%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 26 / 16722 0.155%
America/Latino 84 / 24930 0.337%
Ashkenazi Jewish 18 / 8508 0.212%
East Asian 0 / 12152 0%
Finnish 9 / 17498 0.0514%
Non-Finnish 612 / 73654 0.831%
Other 14 / 4880 0.287%
South Asian 36 / 22860 0.157%
Total MAF 799 / 181204 0.441%


Export Variant

Curation

Likely Benign