NM_001927.4(DES):c.948_952del (p.Lys318fs) AND DES-related condition

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 29, 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:: RCV003407812.4

Allele description [Variation Report for NM_001927.4(DES):c.948_952del (p.Lys318fs)]

NM_001927.4(DES):c.948_952del (p.Lys318fs)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.948_952del (p.Lys318fs)

HGVS:

NC_000002.12:g.219420878_219420882del
NG_008043.1:g.7502_7506del
NM_001382708.1:c.945_949del
NM_001382709.1:c.735+532_735+536del
NM_001382710.1:c.948_952del
NM_001382711.1:c.948_952del
NM_001382712.1:c.948_952del
NM_001382713.1:c.678_682del
NM_001927.4:c.948_952delMANE SELECT
NP_001369637.1:p.Lys317fs
NP_001369639.1:p.Lys318fs
NP_001369640.1:p.Lys318fs
NP_001369641.1:p.Lys318fs
NP_001369642.1:p.Lys228fs
NP_001918.3:p.Lys318fs
LRG_380t1:c.948_952del
LRG_380:g.7502_7506del
NC_000002.11:g.220285600_220285604del
NM_001927.3:c.948_952del
NM_001927.3:c.948_952del5

Protein change:

K228fs

Links:

dbSNP: rs2125168194

NCBI 1000 Genomes Browser:

rs2125168194

Molecular consequence:

NM_001382708.1:c.945_949del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382710.1:c.948_952del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382711.1:c.948_952del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382712.1:c.948_952del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382713.1:c.678_682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001927.4:c.948_952del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382709.1:c.735+532_735+536del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: DES-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004114567	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 29, 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

SCV004114567

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 29, 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 PreventionGenetics, part of Exact Sciences, SCV004114567.1

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

Description

The DES c.948_952del5 variant is predicted to result in a frameshift and premature protein termination (p.Lys318Glyfs*17). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in DES are expected to be pathogenic. This variant is interpreted as likely pathogenic.

#	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: Mar 10, 2024

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