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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 30, 2023
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:
RCV000458316.10

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:
ANKRD1-related dilated cardiomyopathy
Identifiers:
MedGen: CN119551

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000553446Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 30, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders.

Marschall C, Moscu-Gregor A, Klein HG.

Cardiovasc Diagn Ther. 2019 Oct;9(Suppl 2):S292-S298. doi: 10.21037/cdt.2019.06.06.

PubMed [citation]
PMID:
31737537
PMCID:
PMC6837920
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000553446.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 123 of the ANKRD1 protein (p.Thr123Met). This variant is present in population databases (rs145387010, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 19608031, 31737537). ClinVar contains an entry for this variant (Variation ID: 191577). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ANKRD1 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 13, 2024