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NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) AND Primary dilated cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001104802.4

Allele description [Variation Report for NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)]

NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)

Gene:
ANKRD1:ankyrin repeat domain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
Other names:
p.T123M:ACG>ATG
HGVS:
  • NC_000010.11:g.90918950G>A
  • NG_023227.1:g.7326C>T
  • NM_014391.3:c.368C>TMANE SELECT
  • NP_055206.2:p.Thr123Met
  • NP_055206.2:p.Thr123Met
  • LRG_379t1:c.368C>T
  • LRG_379:g.7326C>T
  • LRG_379p1:p.Thr123Met
  • NC_000010.10:g.92678707G>A
  • NM_014391.2:c.368C>T
Protein change:
T123M
Links:
dbSNP: rs145387010
NCBI 1000 Genomes Browser:
rs145387010
Molecular consequence:
  • NM_014391.3:c.368C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001261695Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Aug 12, 2017) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy.

Arimura T, Bos JM, Sato A, Kubo T, Okamoto H, Nishi H, Harada H, Koga Y, Moulik M, Doi YL, Towbin JA, Ackerman MJ, Kimura A.

J Am Coll Cardiol. 2009 Jul 21;54(4):334-42. doi: 10.1016/j.jacc.2008.12.082.

PubMed [citation]
PMID:
19608031

Multifunctional protein: cardiac ankyrin repeat protein.

Zhang N, Xie XJ, Wang JA.

J Zhejiang Univ Sci B. 2016 May;17(5):333-41. doi: 10.1631/jzus.B1500247. Review.

PubMed [citation]
PMID:
27143260
PMCID:
PMC4868823
See all PubMed Citations (7)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001261695.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Oct 13, 2024