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NM_000251.3(MSH2):c.-3G>C AND MSH2-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 10, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004529929.2

Allele description [Variation Report for NM_000251.3(MSH2):c.-3G>C]

NM_000251.3(MSH2):c.-3G>C

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.-3G>C
HGVS:
  • NC_000002.12:g.47403189G>C
  • NG_007110.2:g.5066G>C
  • NM_000251.3:c.-3G>CMANE SELECT
  • NM_001258281.1:c.-31+14G>C
  • LRG_218t1:c.-3G>C
  • LRG_218:g.5066G>C
  • NC_000002.11:g.47630328G>C
  • NM_000251.1:c.-3G>C
  • NM_000251.2:c.-3G>C
  • NM_000251.3:c.-3G>C
Links:
dbSNP: rs587779960
NCBI 1000 Genomes Browser:
rs587779960
Molecular consequence:
  • NM_000251.3:c.-3G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258281.1:c.-31+14G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
MSH2-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004114455PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jun 10, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004114455.2

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

Description

The MSH2 c.-3G>C variant is located in the 5' untranslated region. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of African descent in gnomAD and has conflicting interpretations of likely benign and uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/127624/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 18, 2024