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NM_000432.4(MYL2):c.470A>G (p.His157Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 8, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000158933.4

Allele description [Variation Report for NM_000432.4(MYL2):c.470A>G (p.His157Arg)]

NM_000432.4(MYL2):c.470A>G (p.His157Arg)

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.470A>G (p.His157Arg)
Other names:
p.H157R:CAC>CGC
HGVS:
  • NC_000012.12:g.110911108T>C
  • NG_007554.1:g.14470A>G
  • NM_000432.4:c.470A>GMANE SELECT
  • NP_000423.2:p.His157Arg
  • NP_000423.2:p.His157Arg
  • LRG_393t1:c.470A>G
  • LRG_393:g.14470A>G
  • LRG_393p1:p.His157Arg
  • NC_000012.11:g.111348912T>C
  • NM_000432.3:c.470A>G
Protein change:
H157R
Links:
dbSNP: rs730880951
NCBI 1000 Genomes Browser:
rs730880951
Molecular consequence:
  • NM_000432.4:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000280385Stanford Center for Inherited Cardiovascular Disease, Stanford University
no assertion criteria provided
Uncertain significance
(Jan 8, 2015) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000280385.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. p.His157Arg The variant has not been reported in individuals affected with hypertrophic cardiomyopathy In silico analysis with PolyPhen-2 predicts the variant to be benign (HumVar = 0.265). The histidine at codon 157 is conserved across species, as are neighboring amino acids. Other variants have been reported in association with disease at nearby codons (162 and 166). There are three individuals with variations at codon 157 in MYL2; one European with p.His157His (synonymous) and two African individuals with p.His157Tyr (missense) listed in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/), which currently includes variant calls on ~64,000 individuals of European, African, Latino and Asian descent (as of Jan 28, 2015).

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

Last Updated: Sep 29, 2024