NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met) AND Myosin storage myopathy

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Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 1, 2017
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:: RCV000577955.1

Allele description

NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met)

Genes:

LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [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.5279C>T (p.Thr1760Met)

HGVS:

NC_000014.9:g.23415385G>A
NG_007884.1:g.25277C>T
NM_000257.4:c.5279C>TMANE SELECT
NP_000248.2:p.Thr1760Met
LRG_384t1:c.5279C>T
LRG_384:g.25277C>T
NC_000014.8:g.23884594G>A
NM_000257.2:c.5279C>T
NM_000257.3:c.5279C>T

Protein change:

T1760M

Links:

dbSNP: rs727505294

NCBI 1000 Genomes Browser:

rs727505294

Molecular consequence:

NM_000257.4:c.5279C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Myosin storage myopathy (CMYP7A)
Synonyms:: MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT; Scapuloperoneal myopathy, MYH7-related; MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012018; MedGen: C1842160; OMIM: 608358

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000679789	Phosphorus, Inc.	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 1, 2017)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18409188, 24033266, 27247418, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000679789

Phosphorus, Inc.

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 1, 2017)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Sigwart U, Antonarakis SE, Blouin JL.

Hum Mutat. 2008 Jun;29(6):879-85. doi: 10.1002/humu.20749.

PubMed [citation]

PMID:: 18409188

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

See all PubMed Citations (4)

Details of each submission

From Phosphorus, Inc., SCV000679789.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: Aug 5, 2023

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