NM_000257.4(MYH7):c.4679G>C (p.Arg1560Pro) AND MYH7-related skeletal myopathy

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV001807701.2

Allele description [Variation Report for NM_000257.4(MYH7):c.4679G>C (p.Arg1560Pro)]

NM_000257.4(MYH7):c.4679G>C (p.Arg1560Pro)

Genes:

LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.4679G>C (p.Arg1560Pro)

HGVS:

NC_000014.9:g.23416278C>G
NG_007884.1:g.24384G>C
NM_000257.4:c.4679G>CMANE SELECT
NP_000248.2:p.Arg1560Pro
LRG_384:g.24384G>C
NC_000014.8:g.23885487C>G
NM_000257.2:c.4679G>C
NR_126491.1:n.539C>G

Protein change:

R1560P

Links:

dbSNP: rs730880806

NCBI 1000 Genomes Browser:

rs730880806

Molecular consequence:

NM_000257.4:c.4679G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_126491.1:n.539C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: MYH7-related skeletal myopathy
Synonyms:: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, LATE DISTAL HEREDITARY; Myopathy, distal, 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008050; MedGen: C4552004; Orphanet: 59135; OMIM: 160500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002056016	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002056016

GeneReviews

no classification provided

not provided

germline

literature only

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

Help

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	literature only

Citations

PubMed

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.

Carbonell-Corvillo P, Tristán-Clavijo E, Cabrera-Serrano M, Servián-Morilla E, García-Martín G, Villarreal-Pérez L, Rivas-Infante E, Area-Gómez E, Chamorro-Muñoz MI, Gil-Gálvez A, Miranda-Vizuete A, Martinez-Mir A, Laing N, Paradas C.

Neuromuscul Disord. 2018 Oct;28(10):828-836. doi: 10.1016/j.nmd.2018.07.006. Epub 2018 Jul 26.

PubMed [citation]

PMID:: 30166250

Details of each submission

From GeneReviews, SCV002056016.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Founder variant in southern Spain

#	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: Dec 24, 2023

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