NM_001927.4(DES):c.1009G>C (p.Ala337Pro) AND Myofibrillar myopathy 1

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 1998
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:: RCV000018314.23

Allele description

NM_001927.4(DES):c.1009G>C (p.Ala337Pro)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.1009G>C (p.Ala337Pro)

HGVS:

NC_000002.12:g.219420939G>C
NG_008043.1:g.7563G>C
NM_001927.4:c.1009G>CMANE SELECT
NP_001918.3:p.Ala337Pro
LRG_380t1:c.1009G>C
LRG_380:g.7563G>C
LRG_380p1:p.Ala337Pro
NC_000002.11:g.220285661G>C
NM_001927.3:c.1009G>C
P17661:p.Ala337Pro

Protein change:

A337P; ALA337PRO

Links:

UniProtKB: P17661#VAR_007900; OMIM: 125660.0001; dbSNP: rs59962885

NCBI 1000 Genomes Browser:

rs59962885

Molecular consequence:

NM_001927.4:c.1009G>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein [Variation Ontology: 0002]

Condition(s)

Name:: Myofibrillar myopathy 1 (MFM1)
Synonyms:: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; Desminopathy; Desmin related myopathy (former name); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011076; MedGen: C1832370; Orphanet: 98909; OMIM: 601419

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038593	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1998)	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

SCV000038593

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1998)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Missense mutations in desmin associated with familial cardiac and skeletal myopathy.

Goldfarb LG, Park KY, Cervenáková L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC.

Nat Genet. 1998 Aug;19(4):402-3.

PubMed [citation]

PMID:: 9697706

Details of each submission

From OMIM, SCV000038593.1

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

Description

In affected members of a family with adult-onset myofibrillar myopathy-1 (MFM1; 601419) and mild cardiac involvement, Goldfarb et al. (1998) identified a heterozygous G-to-C transversion in exon 5 of the DES gene, resulting in an ala337-to-pro (A337P) substitution.

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine