NM_001927.4(DES):c.380G>C (p.Arg127Pro) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 30, 2023
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:: RCV000183371.5

Allele description [Variation Report for NM_001927.4(DES):c.380G>C (p.Arg127Pro)]

NM_001927.4(DES):c.380G>C (p.Arg127Pro)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.380G>C (p.Arg127Pro)

Other names:

p.R127P:CGC>CCC

HGVS:

NC_000002.12:g.219418842G>C
NG_008043.1:g.5466G>C
NM_001927.4:c.380G>CMANE SELECT
NP_001918.3:p.Arg127Pro
LRG_380t1:c.380G>C
LRG_380:g.5466G>C
NC_000002.11:g.220283564G>C
NM_001927.3:c.380G>C
c.380G>C

Protein change:

R127P

Links:

dbSNP: rs397516694

NCBI 1000 Genomes Browser:

rs397516694

Molecular consequence:

NM_001927.4:c.380G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000235811	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Nov 30, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000235811

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Nov 30, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000235811.10

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

Description

Observed in an individual with DCM who also harbored potential pathogenic variants in other genes (PMID: 25179549); Not observed at significant frequency in large population cohorts (gnomAD); Reported functional studies showed that myogenic C2C12 cells formed aggregates and granulofilamentous material (PMID: 25179549); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 11061256, 16865695, 25179549)

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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