NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 11, 2019
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:: RCV001770353.2

Allele description [Variation Report for NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu)]

NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu)

HGVS:

NC_000002.12:g.219425962_219425963delinsAG
NG_008043.1:g.12586_12587delinsAG
NM_001927.4:c.1385_1386delinsAGMANE SELECT
NP_001918.3:p.Ala462Glu
LRG_380t1:c.1385_1386delinsAG
LRG_380:g.12586_12587delinsAG
NC_000002.11:g.220290684_220290685delinsAG

Protein change:

A462E

Links:

dbSNP: rs1060503170

NCBI 1000 Genomes Browser:

rs1060503170

Molecular consequence:

NM_001927.4:c.1385_1386delinsAG - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001992677	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 11, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001992677

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 11, 2019)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001992677.2

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported as a variant of uncertain significance in ClinVar but additional evidence is not available (ClinVar Variant ID#411144; Landrum et al., 2016); Deletion of two nucleotides and insertion of two nucleotides that results in the in frame substitution of one amino acid residue; in silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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