NM_001927.4(DES):c.404C>T (p.Ala135Val) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 16, 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:: RCV000217198.16

Allele description [Variation Report for NM_001927.4(DES):c.404C>T (p.Ala135Val)]

NM_001927.4(DES):c.404C>T (p.Ala135Val)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.404C>T (p.Ala135Val)

HGVS:

NC_000002.12:g.219418866C>T
NG_008043.1:g.5490C>T
NM_001927.4:c.404C>TMANE SELECT
NP_001918.3:p.Ala135Val
LRG_380t1:c.404C>T
LRG_380:g.5490C>T
NC_000002.11:g.220283588C>T
NM_001927.3:c.404C>T

Protein change:

A135V

Links:

dbSNP: rs546741834

NCBI 1000 Genomes Browser:

rs546741834

Molecular consequence:

NM_001927.4:c.404C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000270095	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Mar 16, 2015)	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

SCV000270095

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Mar 16, 2015)

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	not provided	2	2	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000270095.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

Description

p.Ala135Val variant in exon 1 of DES: This variant is not expected to have clini cal significance due to a lack of conservation across species, including mammals . Of note, 4 mammals (naked mole-rat, star-nosed mole, opossum, and Tasmanian de vil) have a valine (Val) at this position despite high nearby amino acid conserv ation. It has been identified in 0.2% (16/8402) of South Asian chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs54 6741834).

#	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		2	not provided	2	not provided

Last Updated: Nov 3, 2024

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