NM_001927.4(DES):c.28C>T (p.Arg10Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 14, 2022
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:: RCV001823813.1

Allele description [Variation Report for NM_001927.4(DES):c.28C>T (p.Arg10Cys)]

NM_001927.4(DES):c.28C>T (p.Arg10Cys)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.28C>T (p.Arg10Cys)

HGVS:

NC_000002.12:g.219418490C>T
NG_008043.1:g.5114C>T
NG_046330.1:g.18882C>T
NM_001382708.1:c.28C>T
NM_001382709.1:c.28C>T
NM_001382710.1:c.28C>T
NM_001382711.1:c.28C>T
NM_001382712.1:c.28C>T
NM_001382713.1:c.28C>T
NM_001927.4:c.28C>TMANE SELECT
NP_001369637.1:p.Arg10Cys
NP_001369638.1:p.Arg10Cys
NP_001369639.1:p.Arg10Cys
NP_001369640.1:p.Arg10Cys
NP_001369641.1:p.Arg10Cys
NP_001369642.1:p.Arg10Cys
NP_001918.3:p.Arg10Cys
LRG_380:g.5114C>T
NC_000002.11:g.220283212C>T

Protein change:

R10C

Links:

dbSNP: rs1196125127

NCBI 1000 Genomes Browser:

rs1196125127

Molecular consequence:

NM_001382708.1:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382709.1:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382710.1:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382711.1:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382712.1:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382713.1:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001927.4:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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
SCV002073414	Phosphorus, Inc.	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 14, 2022)	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

SCV002073414

Phosphorus, Inc.

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 14, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Phosphorus, Inc., SCV002073414.1

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

Description

This missense variant resulted in an amino acid substitution of arginine with cysteine at codon 10 of the DES gene. The variant has occurred once in gnomAD with a total MAF of 0.0004%. This position is conserved (GERP = 5.1199). In silico functional algorithms predict this variant to be possibly damaging and deleterious (PolyPhen/SIFT), but no functional studies were performed to confirm these predictions. The variant has not occurred in the literature in association with disease. Considering that this is a rare variant, whose impact on protein and association with disease are unknown, it has been classified as Variant of Uncertain Significance.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine