NM_001927.4(DES):c.949G>C (p.Ala317Pro) AND Desmin-related myofibrillar myopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 1, 2024
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:: RCV004587620.1

Allele description [Variation Report for NM_001927.4(DES):c.949G>C (p.Ala317Pro)]

NM_001927.4(DES):c.949G>C (p.Ala317Pro)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.949G>C (p.Ala317Pro)

HGVS:

NC_000002.12:g.219420879G>C
NG_008043.1:g.7503G>C
NM_001382708.1:c.946G>C
NM_001382709.1:c.735+533G>C
NM_001382710.1:c.949G>C
NM_001382711.1:c.949G>C
NM_001382712.1:c.949G>C
NM_001382713.1:c.679G>C
NM_001927.4:c.949G>CMANE SELECT
NP_001369637.1:p.Ala316Pro
NP_001369639.1:p.Ala317Pro
NP_001369640.1:p.Ala317Pro
NP_001369641.1:p.Ala317Pro
NP_001369642.1:p.Ala227Pro
NP_001918.3:p.Ala317Pro
NP_001918.3:p.Ala317Pro
LRG_380t1:c.949G>C
LRG_380:g.7503G>C
LRG_380p1:p.Ala317Pro
NC_000002.11:g.220285601G>C
NM_001927.3:c.949G>C

Protein change:

A227P

Molecular consequence:

NM_001382709.1:c.735+533G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001382708.1:c.946G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382710.1:c.949G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382711.1:c.949G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382712.1:c.949G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382713.1:c.679G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001927.4:c.949G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Desmin-related myofibrillar myopathy (MFM1)
Synonyms:: Desminopathy; Desmin related myopathy (former name); Desmin storage myopathy (former name); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011076; MedGen: C1832370; Orphanet: 363543; Orphanet: 98909; OMIM: 601419

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005038549	Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 1, 2024)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005038549

Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 1, 2024)

germline

research

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	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire, SCV005038549.1

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

Description

PM1+PM2+PP2+PP3

#	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		1	not provided	not provided	not provided

Last Updated: Jul 23, 2024

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