NM_001927.4(DES):c.542_550del (p.Asp181_Leu184delinsVal) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 18, 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:: RCV002349496.2

Allele description [Variation Report for NM_001927.4(DES):c.542_550del (p.Asp181_Leu184delinsVal)]

NM_001927.4(DES):c.542_550del (p.Asp181_Leu184delinsVal)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.542_550del (p.Asp181_Leu184delinsVal)

HGVS:

NC_000002.12:g.219419004_219419012del
NG_008043.1:g.5628_5636del
NM_001382708.1:c.542_550del
NM_001382709.1:c.542_550del
NM_001382710.1:c.542_550del
NM_001382711.1:c.542_550del
NM_001382712.1:c.542_550del
NM_001382713.1:c.495+47_495+55del
NM_001927.4:c.542_550delMANE SELECT
NP_001369637.1:p.Asp181_Leu184delinsVal
NP_001369638.1:p.Asp181_Leu184delinsVal
NP_001369639.1:p.Asp181_Leu184delinsVal
NP_001369640.1:p.Asp181_Leu184delinsVal
NP_001369641.1:p.Asp181_Leu184delinsVal
NP_001918.3:p.Asp181_Leu184delinsVal
NP_001918.3:p.Asp181_Leu184delinsVal
LRG_380t1:c.542_550del
LRG_380:g.5628_5636del
LRG_380p1:p.Asp181_Leu184delinsVal
NC_000002.11:g.220283726_220283734del
NM_001927.3:c.542_550delACAACCTGC

Molecular consequence:

NM_001382708.1:c.542_550del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382709.1:c.542_550del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382710.1:c.542_550del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382711.1:c.542_550del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382712.1:c.542_550del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001927.4:c.542_550del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382713.1:c.495+47_495+55del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002652852	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 18, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002652852

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 18, 2022)

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

Details of each submission

From Ambry Genetics, SCV002652852.2

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

Description

The c.542_550delACAACCTGC variant (also known as p.D181_L184delinsV) is located in coding exon 1 of the DES gene. This variant results from an in-frame ACAACCTGC deletion at nucleotide positions 542 to 550. The four amino acids at codons 181_184 are replaced by a single valine substitution. This amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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