NM_001943.5(DSG2):c.291A>C (p.Pro97=) AND not specified

Clinical significance:Likely benign (Last evaluated: Jul 23, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000150533.1

Allele description [Variation Report for NM_001943.5(DSG2):c.291A>C (p.Pro97=)]

NM_001943.5(DSG2):c.291A>C (p.Pro97=)

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.291A>C (p.Pro97=)
HGVS:
  • NC_000018.10:g.31520877A>C
  • NG_007072.3:g.27636A>C
  • NM_001943.5:c.291A>CMANE SELECT
  • NP_001934.2:p.Pro97=
  • LRG_397t1:c.291A>C
  • LRG_397:g.27636A>C
  • NC_000018.9:g.29100840A>C
  • NM_001943.3:c.291A>C
  • p.Pro97Pro
Links:
dbSNP: rs727502983
NCBI 1000 Genomes Browser:
rs727502983
Molecular consequence:
  • NM_001943.5:c.291A>C - synonymous variant - [Sequence Ontology: SO:0001819]
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
SCV000197747Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jul 23, 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, SCV000197747.4

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

Description

Pro97Pro in exon 4 of DSG2: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Pro97Pro in exon 4 of DSG2 (allele frequency = n/a)

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

Last Updated: Jul 7, 2021

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