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NM_000432.4(MYL2):c.431del (p.Pro144fs) 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:
RCV000171842.3

Allele description [Variation Report for NM_000432.4(MYL2):c.431del (p.Pro144fs)]

NM_000432.4(MYL2):c.431del (p.Pro144fs)

Gene:
MYL2:myosin light chain 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000432.4(MYL2):c.431del (p.Pro144fs)
HGVS:
  • NC_000012.12:g.110911152del
  • NG_007554.1:g.14431del
  • NM_000432.4:c.431delMANE SELECT
  • NP_000423.2:p.Pro144fs
  • LRG_393:g.14431del
  • NC_000012.11:g.111348951del
  • NC_000012.11:g.111348956del
  • NM_000432.3:c.431delC
  • NM_000432.4:c.431delCMANE SELECT
Nucleotide change:
1-BP DEL, 431C
Protein change:
P144fs
Links:
OMIM: 160781.0007; dbSNP: rs786205430
NCBI 1000 Genomes Browser:
rs786205430
Molecular consequence:
  • NM_000432.4:c.431del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000055308Biesecker 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, SCV000055308.2

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

Last Updated: Sep 29, 2024