NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 9, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000158881.1

Allele description [Variation Report for NM_000257.4(MYH7):c.740T>G (p.Phe247Cys)]

NM_000257.4(MYH7):c.740T>G (p.Phe247Cys)

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.740T>G (p.Phe247Cys)
Other names:
p.F247C:TTC>TGC
HGVS:
  • NC_000014.9:g.23431474A>C
  • NG_007884.1:g.9188T>G
  • NM_000257.4:c.740T>GMANE SELECT
  • NP_000248.2:p.Phe247Cys
  • LRG_384t1:c.740T>G
  • LRG_384:g.9188T>G
  • NC_000014.8:g.23900683A>C
  • NM_000257.2:c.740T>G
  • NM_000257.3:c.740T>G
Protein change:
F247C
Links:
dbSNP: rs730880922
NCBI 1000 Genomes Browser:
rs730880922
Molecular consequence:
  • NM_000257.4:c.740T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000208816GeneDxcriteria provided, single submitter
Pathogenic
(Dec 9, 2011)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208816.10

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

Description

This mutation is denoted p.Phe247Cys (F247C) at the protein level and c.740 T>G at the cDNA level. The Phe247Cys mutation in the MYH7 gene has not been published previously as a disease-causing mutation or a benign polymorphism, to our knowledge. Phe247Cys results in a non-conservative amino acid substitution of a non-polar Phenylalanine with a neutral, polar Cysteine. Mutations affecting the same residue (Phe247Leu) or nearby residues (Phe244Leu, Lys246Gln, Arg249Gln, His251Asn) have been reported in association with HCM, further supporting the functional importance of this residue and this region of the protein. Furthermore, Phe247Cys was not detected in 640 alleles from control individuals of various ethnicities tested at GeneDx, indicating it is not a common benign variant. The variant is found in HCM panel(s).

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

Last Updated: Nov 10, 2021

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