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NM_000432.4(MYL2):c.483C>A (p.His161Gln) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 13, 2015
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:
RCV000247783.3

Allele description [Variation Report for NM_000432.4(MYL2):c.483C>A (p.His161Gln)]

NM_000432.4(MYL2):c.483C>A (p.His161Gln)

Gene:
MYL2:myosin light chain 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000432.4(MYL2):c.483C>A (p.His161Gln)
HGVS:
  • NC_000012.12:g.110911095G>T
  • NG_007554.1:g.14483C>A
  • NM_000432.4:c.483C>AMANE SELECT
  • NP_000423.2:p.His161Gln
  • NP_000423.2:p.His161Gln
  • LRG_393t1:c.483C>A
  • LRG_393:g.14483C>A
  • LRG_393p1:p.His161Gln
  • NC_000012.11:g.111348899G>T
  • NM_000432.3:c.483C>A
Protein change:
H161Q
Links:
dbSNP: rs886039108
NCBI 1000 Genomes Browser:
rs886039108
Molecular consequence:
  • NM_000432.4:c.483C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320072Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 13, 2015) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.

Helms AS, Davis FM, Coleman D, Bartolone SN, Glazier AA, Pagani F, Yob JM, Sadayappan S, Pedersen E, Lyons R, Westfall MV, Jones R, Russell MW, Day SM.

Circ Cardiovasc Genet. 2014 Aug;7(4):434-43. doi: 10.1161/CIRCGENETICS.113.000448. Epub 2014 Jul 16.

PubMed [citation]
PMID:
25031304
PMCID:
PMC4254656

Details of each submission

From Ambry Genetics, SCV000320072.7

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

Description

The p.H161Q variant (also known as c.483C>A), located in coding exon 7 of the MYL2 gene, results from a C to A substitution at nucleotide position 483. The histidine at codon 161 is replaced by glutamine, an amino acid with highly similar properties. This variant has not been previously reported in association with hypertrophic cardiomyopathy (HCM). Another alteration in the same codon, p.H161R (c.482A>G), has been reported in association with HCM (Helms AS et al. Circ Cardiovasc Genet. 2014; 7(4):434-43). The p.H161Q variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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

Last Updated: May 1, 2024