NM_000257.4(MYH7):c.2769C>T (p.Asn923=) AND Myosin storage myopathy

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV003320056.8

Allele description [Variation Report for NM_000257.4(MYH7):c.2769C>T (p.Asn923=)]

NM_000257.4(MYH7):c.2769C>T (p.Asn923=)

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.2769C>T (p.Asn923=)

Other names:

p.N923N:AAC>AAT; NM_000257.3(MYH7):c.2769C>T

HGVS:

NC_000014.9:g.23424060G>A
NG_007884.1:g.16602C>T
NM_000257.4:c.2769C>TMANE SELECT
NP_000248.2:p.Asn923=
LRG_384t1:c.2769C>T
LRG_384:g.16602C>T
NC_000014.8:g.23893269G>A
NM_000257.2:c.2769C>T
NM_000257.3:c.2769C>T
c.2769C>T
p.Asn923Asn

Links:

dbSNP: rs36211716

NCBI 1000 Genomes Browser:

rs36211716

Molecular consequence:

NM_000257.4:c.2769C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Myosin storage myopathy (CMYO7A)
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

Recent activity

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Spermatogenesis
Spermatogenesis
The process of germ cell development in the male from the primordial germ cells, through SPERMATOGONIA; SPERMATOCYTES; SPERMATIDS; to the mature haploid SPERMATOZOA....<br/>Year introduced: 1973(1971)

MeSH
Matrix Metalloproteinase 9
Matrix Metalloproteinase 9
An endopeptidase that is structurally similar to MATRIX METALLOPROTEINASE 2. It degrades GELATIN types I and V; COLLAGEN TYPE IV; and COLLAGEN TYPE V.<br/>Year introduced: 2007(2000)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000386132	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000386132

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000386132.2

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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