U.S. flag

An official website of the United States government

NM_001927.4(DES):c.1371+1G>C AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 14, 2020
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:
RCV000183363.2

Allele description [Variation Report for NM_001927.4(DES):c.1371+1G>C]

NM_001927.4(DES):c.1371+1G>C

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.1371+1G>C
HGVS:
  • NC_000002.12:g.219425746G>C
  • NG_008043.1:g.12370G>C
  • NM_001382708.1:c.1368+1G>C
  • NM_001382709.1:c.939+1G>C
  • NM_001382710.1:c.1302+1G>C
  • NM_001382711.1:c.1350+1G>C
  • NM_001382712.1:c.1371+1G>C
  • NM_001382713.1:c.1101+1G>C
  • NM_001927.4:c.1371+1G>CMANE SELECT
  • LRG_380t1:c.1371+1G>C
  • LRG_380:g.12370G>C
  • NC_000002.11:g.220290468G>C
  • NM_001927.3:c.1371+1G>C
Links:
dbSNP: rs748323823
NCBI 1000 Genomes Browser:
rs748323823
Molecular consequence:
  • NM_001382708.1:c.1368+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001382709.1:c.939+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001382710.1:c.1302+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001382711.1:c.1350+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001382712.1:c.1371+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001382713.1:c.1101+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001927.4:c.1371+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000235803GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Apr 14, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000235803.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023