NM_000257.4(MYH7):c.730T>C (p.Phe244Leu) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 21, 2013
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:: RCV000158757.2

Allele description [Variation Report for NM_000257.4(MYH7):c.730T>C (p.Phe244Leu)]

NM_000257.4(MYH7):c.730T>C (p.Phe244Leu)

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.730T>C (p.Phe244Leu)

Other names:

p.F244L:TTC>CTC

HGVS:

NC_000014.9:g.23431587A>G
NG_007884.1:g.9075T>C
NM_000257.4:c.730T>CMANE SELECT
NP_000248.2:p.Phe244Leu
LRG_384t1:c.730T>C
LRG_384:g.9075T>C
NC_000014.8:g.23900796A>G
NM_000257.2:c.730T>C
P12883:p.Phe244Leu

Protein change:

F244L

Links:

UniProtKB: P12883#VAR_020802; dbSNP: rs730880849

NCBI 1000 Genomes Browser:

rs730880849

Molecular consequence:

NM_000257.4:c.730T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000208692	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 21, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000208692

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 21, 2013)

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, SCV000208692.9

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

Description

p.Phe244Leu (F244L) TTC>CTC: c.730 T>C in exon 8 of the MYH7 gene (NM_000257.2). The Phe244Leu mutation in the MYH7 gene has been reported in association with HCM (Rayment I et al., 2005). Phe244Leu results in a semi-conservative amino acid substitution of large, bulky Phenylalanine with a smaller Leucine at a position that is conserved across species. Mutations in nearby residues (Arg243Cys, Arg243His, Lys246Gln, Phe247Leu) have been reported in association with HCM, further supporting the functional importance of this region of the protein. Furthermore, the Phe244Leu mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in MYH7 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 5, 2022

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