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NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 28, 2014
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:
RCV000150542.4

Allele description [Variation Report for NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)]

NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)

Genes:
DSG2-AS1:DSG2 antisense RNA 1 [Gene - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)
HGVS:
  • NC_000018.10:g.31542770C>T
  • NG_007072.3:g.49529C>T
  • NM_001943.5:c.2252C>TMANE SELECT
  • NP_001934.2:p.Thr751Ile
  • LRG_397t1:c.2252C>T
  • LRG_397:g.49529C>T
  • NC_000018.9:g.29122733C>T
  • NM_001943.3:c.2252C>T
  • NM_001943.4:c.2252C>T
Protein change:
T751I
Links:
dbSNP: rs727502989
NCBI 1000 Genomes Browser:
rs727502989
Molecular consequence:
  • NM_001943.5:c.2252C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000197765Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Nov 28, 2014) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000197765.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The p.Thr751Ile var iant in DSG2 has not been previously reported in individuals with cardiomyopathy , but has been identified in 2/67482 European chromosomes by the Exome Aggregati on Consortium (ExAC, http://exac.broadinstitute.org). Threonine (Thr) at positio n 751 is poorly conserved in evolution and one mammalian species (megabat) carri es an isoleucine (Ile) at this position, raising the possibility that this chang e may be tolerated. Computational prediction tools also suggest that this varian t may not impact the protein, though this information is not predictive enough t o rule out pathogenicity. In summary, while the clinical significance of the p.T hr751Ile variant is uncertain, these data suggest that it is more likely to be b enign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: May 7, 2024