NM_001927.4(DES):c.735G>A (p.Glu245=) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: May 7, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000489159.9

Allele description [Variation Report for NM_001927.4(DES):c.735G>A (p.Glu245=)]

NM_001927.4(DES):c.735G>A (p.Glu245=)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.735G>A (p.Glu245=)

HGVS:

NC_000002.12:g.219420346G>A
NG_008043.1:g.6970G>A
NM_001927.4:c.735G>AMANE SELECT
NP_001918.3:p.Glu245=
LRG_380t1:c.735G>A
LRG_380:g.6970G>A
NC_000002.11:g.220285068G>A
NM_001927.3:c.735G>A

Links:

dbSNP: rs267607486

NCBI 1000 Genomes Browser:

rs267607486

Molecular consequence:

NM_001927.4:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

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
SCV000331850	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Aug 26, 2015)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 15759133, 18765652, 19105189, 22153487 I:\T\Sequencing\Sequencing Mutation Database\DES\c.735GA (p.E245E).docx, Citation Link,
SCV000577688	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 7, 2024)	germline	clinical testing	Citation Link,
SCV000928061	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Likely pathogenic (Nov 19, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000331850

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Aug 26, 2015)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

I:\T\Sequencing\Sequencing Mutation Database\DES\c.735GA (p.E245E).docx,

Citation Link,

SCV000577688

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 7, 2024)

germline

clinical testing

Citation Link,

SCV000928061

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Likely pathogenic
(Nov 19, 2018)

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
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.

Vrabie A, Goldfarb LG, Shatunov A, Nägele A, Fritz P, Kaczmarek I, Goebel HH.

Acta Neuropathol. 2005 Apr;109(4):411-7. Epub 2005 Mar 10.

PubMed [citation]

PMID:: 15759133

Distinct muscle imaging patterns in myofibrillar myopathies.

Fischer D, Kley RA, Strach K, Meyer C, Sommer T, Eger K, Rolfs A, Meyer W, Pou A, Pradas J, Heyer CM, Grossmann A, Huebner A, Kress W, Reimann J, Schröder R, Eymard B, Fardeau M, Udd B, Goldfarb L, Vorgerd M, Olivé M.

Neurology. 2008 Sep 2;71(10):758-65. doi: 10.1212/01.wnl.0000324927.28817.9b.

PubMed [citation]

PMID:: 18765652
PMCID:: PMC2583436

See all PubMed Citations (4)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000331850.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

#	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		1	not provided	not provided	not provided

From GeneDx, SCV000577688.5

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

#	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

From Blueprint Genetics, SCV000928061.1

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

#	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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