NM_001943.5(DSG2):c.706A>G (p.Thr236Ala) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Aug 22, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000150535.1

Allele description [Variation Report for NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)]

NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)
HGVS:
  • NC_000018.10:g.31524463A>G
  • NG_007072.3:g.31222A>G
  • NM_001943.5:c.706A>GMANE SELECT
  • NP_001934.2:p.Thr236Ala
  • LRG_397t1:c.706A>G
  • LRG_397:g.31222A>G
  • NC_000018.9:g.29104426A>G
  • NM_001943.3:c.706A>G
  • NM_001943.4:c.706A>G
Protein change:
T236A
Links:
dbSNP: rs727502985
NCBI 1000 Genomes Browser:
rs727502985
Molecular consequence:
  • NM_001943.5:c.706A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000197749Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Aug 22, 2014)
germlineclinical testing

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

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, Partners HealthCare Personalized Medicine, SCV000197749.4

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

Description

Variant classified as Uncertain Significance - Favor Benign. The Thr236Ala varia nt in DSG2 has not been previously reported in individuals with cardiomyopathy o r in large population studies. Threonine (Thr) at position 236 is not conserved in mammals or evolutionarily distant species and 2 mammals (black flying fox and megabat) carry an alanine (Ala) at this position, raising the possibility that this change may be tolerated. Computational prediction tools do not provide stro ng support for or against and impact to the protein. In summary, while the clini cal significance of the Thr236Ala variant is uncertain, the presence of the vari ant amino acid in other mammals suggests that it is more likely to be benign.

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

Last Updated: Sep 29, 2021

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