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NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) AND Myosin storage myopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 21, 2019
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:
RCV003320065.8

Allele description [Variation Report for NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)]

NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)

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.3286G>T (p.Asp1096Tyr)
Other names:
NM_000257.3(MYH7):c.3286G>T
HGVS:
  • NC_000014.9:g.23421008C>A
  • NG_007884.1:g.19654G>T
  • NM_000257.4:c.3286G>TMANE SELECT
  • NP_000248.2:p.Asp1096Tyr
  • LRG_384t1:c.3286G>T
  • LRG_384:g.19654G>T
  • NC_000014.8:g.23890217C>A
  • NM_000257.2:c.3286G>T
  • NM_000257.3:c.3286G>T
  • c.3286G>T
  • p.D1096Y
Protein change:
D1096Y
Links:
dbSNP: rs45478699
NCBI 1000 Genomes Browser:
rs45478699
Molecular consequence:
  • NM_000257.4:c.3286G>T - missense variant - [Sequence Ontology: SO:0001583]

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:0008409; MedGen: C1842160; Orphanet: 437572; OMIM: 608358

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001272030Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(May 21, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

Hershberger RE, Parks SB, Kushner JD, Li D, Ludwigsen S, Jakobs P, Nauman D, Burgess D, Partain J, Litt M.

Clin Transl Sci. 2008 May;1(1):21-6. doi: 10.1111/j.1752-8062.2008.00017.x.

PubMed [citation]
PMID:
19412328
PMCID:
PMC2633921

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001272030.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Jul 7, 2024