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NM_000257.4(MYH7):c.5020G>A (p.Val1674Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2012
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:
RCV000035946.7

Allele description [Variation Report for NM_000257.4(MYH7):c.5020G>A (p.Val1674Met)]

NM_000257.4(MYH7):c.5020G>A (p.Val1674Met)

Genes:
LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.5020G>A (p.Val1674Met)
HGVS:
  • NC_000014.9:g.23415766C>T
  • NG_007884.1:g.24896G>A
  • NM_000257.4:c.5020G>AMANE SELECT
  • NP_000248.2:p.Val1674Met
  • LRG_384t1:c.5020G>A
  • LRG_384:g.24896G>A
  • NC_000014.8:g.23884975C>T
  • NM_000257.2:c.5020G>A
  • NM_000257.3:c.5020G>A
  • NR_126491.1:n.198C>T
  • c.5020G>A
Protein change:
V1674M
Links:
dbSNP: rs397516235
NCBI 1000 Genomes Browser:
rs397516235
Molecular consequence:
  • NM_000257.4:c.5020G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_126491.1:n.198C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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
SCV000059597Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Jun 14, 2012) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059597.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The Val1674Met variant in MYH7 has not been reported in the literature, but has been identified in 1 individual with HCM (this individual) out of >3600 probands (>2200 Caucasian) tested by our laboratory. In addition, this variant has not b een identified in large and broad populations (European and African American) se quenced by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS) . While this low frequency supports a pathogenic role, the ethnicity of this ind ividual was not specified and it remains possible that this variant is common in other populations. Valine (Val) at position 1674 is highly conserved in mammal and across evolutionarily distant species, though the change to methionine (Met) was predicted to be benign using a computational tool, which was validated by o ur laboratory using a set of cardiomyopathy variants with well-established clini cal significance (benign predictions are estimated to be correct 89% of the time , Jordan 2011). Additional studies are needed to fully assess the clinical signi ficance of this variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2024