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NM_000257.4(MYH7):c.625C>A (p.Gln209Lys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 24, 2020
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:
RCV002365176.9

Allele description [Variation Report for NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)]

NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)
HGVS:
  • NC_000014.9:g.23431775G>T
  • NG_007884.1:g.8887C>A
  • NM_000257.4:c.625C>AMANE SELECT
  • NP_000248.2:p.Gln209Lys
  • LRG_384t1:c.625C>A
  • LRG_384:g.8887C>A
  • NC_000014.8:g.23900984G>T
  • NM_000257.2:c.625C>A
Protein change:
Q209K
Links:
dbSNP: rs878853840
NCBI 1000 Genomes Browser:
rs878853840
Molecular consequence:
  • NM_000257.4:c.625C>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
SCV002660793Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 24, 2020) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

Santos S, Marques V, Pires M, Silveira L, Oliveira H, Lança V, Brito D, Madeira H, Esteves JF, Freitas A, Carreira IM, Gaspar IM, Monteiro C, Fernandes AR.

BMC Med Genet. 2012 Mar 19;13:17. doi: 10.1186/1471-2350-13-17.

PubMed [citation]
PMID:
22429680
PMCID:
PMC3359199

Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy.

Hazebroek MR, Krapels I, Verdonschot J, van den Wijngaard A, Vanhoutte E, Hoos M, Snijders L, van Montfort L, Witjens M, Dennert R, Crijns HJGM, Brunner-La Rocca HP, Brunner HG, Heymans S.

Circ Heart Fail. 2018 Mar;11(3):e004682. doi: 10.1161/CIRCHEARTFAILURE.117.004682.

PubMed [citation]
PMID:
29540472

Details of each submission

From Ambry Genetics, SCV002660793.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.Q209K variant (also known as c.625C>A), located in coding exon 5 of the MYH7 gene, results from a C to A substitution at nucleotide position 625. The glutamine at codon 209 is replaced by lysine, an amino acid with similar properties, and is located in the head domain. This variant was reported in an individual from a dilated cardiomyopathy cohort in whom it may have co-occurred with a second MYH7 variant (Hazebroek MR et al. Circ Heart Fail, 2018 03;11:e004682). A different variant affecting this codon (p.Q209E, c.625C>G) was detected in a hypertrophic cardiomyopathy cohort (Santos S et al. BMC Med. Genet., 2012 Mar;13:17). This amino acid position is well conserved in available vertebrate species; however, lysine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024