chr10:90915565:G>A Detail (hg38) (ANKRD1)

Information

Genome

Assembly Position
hg19 chr10:92,675,322-92,675,322 View the variant detail on this assembly version.
hg38 chr10:90,915,565-90,915,565

HGVS

Type Transcript Protein
RefSeq NM_014391.2:c.827C>T NP_055206.2:p.Ala276Val
Ensemble ENST00000371697.4:c.827C>T ENST00000371697.4:p.Ala276Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 609599 OMIM
HGNC 15819 HGNC
Ensembl ENSG00000148677 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv369181877 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2018-08-29 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign Likely benign 2017-04-27 criteria provided, multiple submitters, no conflicts Primary dilated cardiomyopathy germline unknown Detail
Benign 2017-02-23 criteria provided, single submitter germline Detail
Benign Likely benign 2023-11-07 criteria provided, multiple submitters, no conflicts not provided germline Detail
Conflicting interpretations of pathogenicity 2016-10-19 criteria provided, conflicting interpretations Congenital total pulmonary venous return anomaly germline Detail
Likely benign 2017-05-23 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Likely benign 2019-04-30 criteria provided, single submitter cardiomyopathy germline Detail
Benign 2019-04-01 criteria provided, single submitter cardiomyopathy,systolic heart failure germline Detail
Benign 2019-04-01 criteria provided, single submitter cardiomyopathy,systolic heart failure germline Detail
Benign 2024-01-31 criteria provided, single submitter ANKRD1-related dilated cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) AND not specified ClinVar Detail
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) AND Primary dilated cardiomyopathy ClinVar Detail
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) AND Cardiovascular phenotype ClinVar Detail
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) AND not provided ClinVar Detail
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) AND Congenital total pulmonary venous return anomaly ClinVar Detail
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) AND Cardiomyopathy ClinVar Detail
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) AND multiple conditions ClinVar Detail
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) AND multiple conditions ClinVar Detail
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) AND ANKRD1-related dilated cardiomyopathy ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs35550482 dbSNP
Genome
hg38
Position
chr10:90,915,565-90,915,565
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8564
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120922
Allele Counts in All Race (ExAC)
346
Heterozygous Counts in All Race (ExAC)
344
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.002861348637964969
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