NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro) AND MYH7-related skeletal myopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000132754.10

Allele description [Variation Report for NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro)]

NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro)

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.4937T>C (p.Leu1646Pro)

HGVS:

NC_000014.9:g.23416020A>G
NG_007884.1:g.24642T>C
NM_000257.4:c.4937T>CMANE SELECT
NP_000248.2:p.Leu1646Pro
LRG_384t1:c.4937T>C
LRG_384:g.24642T>C
LRG_384p1:p.Leu1646Pro
NC_000014.8:g.23885229A>G
NM_000257.2:c.4937T>C
NR_126491.1:n.281A>G

Protein change:

L1646P

Links:

dbSNP: rs587779393

NCBI 1000 Genomes Browser:

rs587779393

Molecular consequence:

NM_000257.4:c.4937T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_126491.1:n.281A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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
SCV000119905	Neurogenetics Laboratory, Royal Perth Hospital	no assertion criteria provided	Pathogenic (Jan 1, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000119905

Neurogenetics Laboratory, Royal Perth Hospital

no assertion criteria provided

Pathogenic
(Jan 1, 2013)

germline

clinical testing

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	yes	6	1	not provided	not provided	Yes	clinical testing

Citations

PubMed

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, et al.

Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21.

PubMed [citation]

PMID:: 24664454
PMCID:: PMC4112555

Details of each submission

From Neurogenetics Laboratory, Royal Perth Hospital, SCV000119905.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	Yes	clinical testing (GTR000506078.1)	PubMed (1)

#	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	(GTR000506078.1)	6	not provided	1	not provided

Last Updated: Oct 26, 2024

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