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NM_000251.3(MSH2):c.174C>G (p.Phe58Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 20, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003329284.1

Allele description [Variation Report for NM_000251.3(MSH2):c.174C>G (p.Phe58Leu)]

NM_000251.3(MSH2):c.174C>G (p.Phe58Leu)

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.174C>G (p.Phe58Leu)
HGVS:
  • NC_000002.12:g.47403365C>G
  • NG_007110.2:g.5242C>G
  • NM_000251.3:c.174C>GMANE SELECT
  • NM_001258281.1:c.-25C>G
  • NP_000242.1:p.Phe58Leu
  • NP_000242.1:p.Phe58Leu
  • LRG_218t1:c.174C>G
  • LRG_218:g.5242C>G
  • LRG_218p1:p.Phe58Leu
  • NC_000002.11:g.47630504C>G
  • NM_000251.1:c.174C>G
  • NM_000251.2:c.174C>G
Protein change:
F58L
Links:
dbSNP: rs372189599
NCBI 1000 Genomes Browser:
rs372189599
Molecular consequence:
  • NM_001258281.1:c.-25C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000251.3:c.174C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004036854GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 20, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV004036854.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies suggest a neutral effect: demonstrates sensitivity to 6-TG and mismatch repair (MMR) function similar to wild-type (Jia et al., 2020); This variant is associated with the following publications: (PMID: 18822302, 21120944, 33471991, 33357406, 25980754)

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

Last Updated: Sep 29, 2024