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NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 16, 2018
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:
RCV000235359.4

Allele description [Variation Report for NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr)]

NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr)

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.260C>A (p.Ser87Tyr)
HGVS:
  • NC_000002.12:g.47408449C>A
  • NG_007110.2:g.10326C>A
  • NM_000251.3:c.260C>AMANE SELECT
  • NM_001258281.1:c.62C>A
  • NP_000242.1:p.Ser87Tyr
  • NP_000242.1:p.Ser87Tyr
  • NP_001245210.1:p.Ser21Tyr
  • LRG_218t1:c.260C>A
  • LRG_218:g.10326C>A
  • LRG_218p1:p.Ser87Tyr
  • NC_000002.11:g.47635588C>A
  • NM_000251.1:c.260C>A
  • NM_000251.2:c.260C>A
Protein change:
S21Y
Links:
dbSNP: rs587781447
NCBI 1000 Genomes Browser:
rs587781447
Molecular consequence:
  • NM_000251.3:c.260C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.62C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000292909GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 16, 2018) 		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, SCV000292909.11

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

Description

This variant is denoted MSH2 c.260C>A at the cDNA level, p.Ser87Tyr (S87Y) at the protein level, and results in the change of a Serine to a Tyrosine (TCT>TAT). This variant was not observed in a cohort of individuals diagnosed with colon cancer, however it was identified in an unaffected control (Arora 2015). MSH2 Ser87Tyr was not observed at a significant allele frequency in large population cohorts (Lek 2016). Since Serine and Tyrosine differ in some properties, this is considered a semi-conservative amino acid substitution. MSH2 Ser87Tyr occurs at a position that is conserved in mammals and is located in the mismatch binding domain (Lutzen 2008, Kansikas 2011). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether MSH2 Ser87Tyr is a pathogenic variant or a benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Jun 9, 2024