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NM_000251.3(MSH2):c.220A>C (p.Asn74His) AND MSH2-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 7, 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:
RCV004734660.1

Allele description [Variation Report for NM_000251.3(MSH2):c.220A>C (p.Asn74His)]

NM_000251.3(MSH2):c.220A>C (p.Asn74His)

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.220A>C (p.Asn74His)
Other names:
p.N74H:AAT>CAT
HGVS:
  • NC_000002.12:g.47408409A>C
  • NG_007110.2:g.10286A>C
  • NM_000251.3:c.220A>CMANE SELECT
  • NM_001258281.1:c.22A>C
  • NP_000242.1:p.Asn74His
  • NP_000242.1:p.Asn74His
  • NP_001245210.1:p.Asn8His
  • LRG_218t1:c.220A>C
  • LRG_218:g.10286A>C
  • LRG_218p1:p.Asn74His
  • NC_000002.11:g.47635548A>C
  • NM_000251.1:c.220A>C
  • NM_000251.2:c.220A>C
Protein change:
N74H
Links:
dbSNP: rs150548839
NCBI 1000 Genomes Browser:
rs150548839
Molecular consequence:
  • NM_000251.3:c.220A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.22A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005346191PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jul 7, 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, SCV005346191.1

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

Description

The MSH2 c.220A>C variant is predicted to result in the amino acid substitution p.Asn74His. This variant was reported in 1 case and 0 controls in a study of women with breast cancer (Supplemental Data, Breast Cancer Association Consortium et al 2021. PubMed ID: 33471991). It was also reported in one healthy individual in a study of variants in cancer-susceptibility genes in the general population (Bodian et al. 2014. PubMed ID: 24728327). The p.Asn74His substitution was reported as functionally neutral based on an experimental study (Table S5, Jia et al. 2020. PubMed ID: 33357406). This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD. It has conflicting interpretations in ClinVar, ranging from benign to likely benign to uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/134846/). 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: Oct 13, 2024