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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 5, 2018
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:
RCV000171828.3

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:
Hypertrophic cardiomyopathy
Synonyms:
HYPERTROPHIC MYOCARDIOPATHY
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000050855Biesecker Lab/Clinical Genomics Section, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 5, 2018) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownno1not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health, SCV000050855.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnonot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024