NM_001927.4(DES):c.1372-3dup AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Jul 15, 2020
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:: RCV000824726.8

Allele description [Variation Report for NM_001927.4(DES):c.1372-3dup]

NM_001927.4(DES):c.1372-3dup

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.1372-3dup

HGVS:

NC_000002.12:g.219425946dup
NG_008043.1:g.12570dup
NM_001927.4:c.1372-3dupMANE SELECT
LRG_380:g.12570dup
NC_000002.11:g.220290664_220290665insC
NC_000002.11:g.220290668dup
NM_001927.3:c.1372-3dupC
NM_001927.3:c.1372-3dupC

Links:

dbSNP: rs876657769

NCBI 1000 Genomes Browser:

rs876657769

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
SCV000342348	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions)	Uncertain significance (Jun 7, 2016)	germline	clinical testing	Citation Link,
SCV000568063	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jul 15, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000342348

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions)

Uncertain significance
(Jun 7, 2016)

germline

clinical testing

Citation Link,

SCV000568063

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jul 15, 2020)

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	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000342348.3

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

From GeneDx, SCV000568063.6

#	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: Oct 13, 2024

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