NM_014391.2(ANKRD1):c.108T>C (p.Ala36=) AND Primary dilated cardiomyopathy

Clinical significance:Likely benign (Last evaluated: Sep 18, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001105940.1

Allele description [Variation Report for NM_014391.2(ANKRD1):c.108T>C (p.Ala36=)]

NM_014391.2(ANKRD1):c.108T>C (p.Ala36=)

Gene:
ANKRD1:ankyrin repeat domain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_014391.2(ANKRD1):c.108T>C (p.Ala36=)
HGVS:
  • NC_000010.11:g.90920268A>G
  • NG_023227.1:g.6008T>C
  • NM_014391.2:c.108T>C
  • NP_055206.2:p.Ala36=
  • LRG_379t1:c.108T>C
  • LRG_379:g.6008T>C
  • LRG_379p1:p.Ala36=
  • NC_000010.10:g.92680025A>G
Links:
dbSNP: rs145211719
NCBI 1000 Genomes Browser:
rs145211719
Molecular consequence:
  • NM_014391.2:c.108T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Congestive cardiomyopathy; Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001262964Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Sep 18, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.

Meyer T, Ruppert V, Ackermann S, Richter A, Perrot A, Sperling SR, Posch MG, Maisch B, Pankuweit S; German Competence Network Heart Failure..

Eur J Hum Genet. 2013 Mar;21(3):294-300. doi: 10.1038/ejhg.2012.173. Epub 2012 Aug 15.

PubMed [citation]
PMID:
22892539
PMCID:
PMC3573205

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001262964.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2021

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