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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 9, 2011
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:: 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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000208816	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Dec 9, 2011)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000208816

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Dec 9, 2011)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000208816.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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