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NM_001927.4(DES):c.638C>T (p.Ala213Val) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 15, 2015
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:
RCV000250294.10

Allele description

NM_001927.4(DES):c.638C>T (p.Ala213Val)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.638C>T (p.Ala213Val)
HGVS:
  • NC_000002.12:g.219420154C>T
  • NG_008043.1:g.6778C>T
  • NM_001927.4:c.638C>TMANE SELECT
  • NP_001918.3:p.Ala213Val
  • NP_001918.3:p.Ala213Val
  • LRG_380t1:c.638C>T
  • LRG_380:g.6778C>T
  • LRG_380p1:p.Ala213Val
  • NC_000002.11:g.220284876C>T
  • NM_001927.3:c.638C>T
  • P17661:p.Ala213Val
  • c.638C>T
Protein change:
A213V
Links:
UniProtKB: P17661#VAR_042451; dbSNP: rs41272699
NCBI 1000 Genomes Browser:
rs41272699
Molecular consequence:
  • NM_001927.4:c.638C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000318135Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Benign
(Sep 15, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000318135.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024