NM_001943.5(DSG2):c.782G>A (p.Arg261His) AND not specified

Clinical significance:Likely benign (Last evaluated: Aug 7, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000150534.1

Allele description [Variation Report for NM_001943.5(DSG2):c.782G>A (p.Arg261His)]

NM_001943.5(DSG2):c.782G>A (p.Arg261His)

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.782G>A (p.Arg261His)
HGVS:
  • NC_000018.10:g.31524539G>A
  • NG_007072.3:g.31298G>A
  • NM_001943.5:c.782G>AMANE SELECT
  • NP_001934.2:p.Arg261His
  • LRG_397t1:c.782G>A
  • LRG_397:g.31298G>A
  • NC_000018.9:g.29104502G>A
  • NM_001943.3:c.782G>A
  • NM_001943.4:c.782G>A
Protein change:
R261H
Links:
dbSNP: rs727502984
NCBI 1000 Genomes Browser:
rs727502984
Molecular consequence:
  • NM_001943.5:c.782G>A - 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
SCV000197748Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Aug 7, 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, SCV000197748.4

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

Description

Arg261His in exon 7 of DSG2: This variant is not expected to have clinical signi ficance due to a lack of conservation across species, including mammals. Of note , 6 mammals (dolphin, killer whale, white rhinoceros, shrew, aardvark, and armad illo) have a histidine (His) at this position despite high nearby amino acid con servation. Additional computational prediction tools do not suggest a high likel ihood of impact to the protein.

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

Last Updated: Jul 7, 2021

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