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NM_000251.3(MSH2):c.791A>G (p.Gln264Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 9, 2014
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:
RCV000160640.1

Allele description [Variation Report for NM_000251.3(MSH2):c.791A>G (p.Gln264Arg)]

NM_000251.3(MSH2):c.791A>G (p.Gln264Arg)

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.791A>G (p.Gln264Arg)
Other names:
p.Q264R:CAG>CGG
HGVS:
  • NC_000002.12:g.47412559A>G
  • NG_007110.2:g.14436A>G
  • NM_000251.3:c.791A>GMANE SELECT
  • NM_001258281.1:c.593A>G
  • NP_000242.1:p.Gln264Arg
  • NP_000242.1:p.Gln264Arg
  • NP_001245210.1:p.Gln198Arg
  • LRG_218t1:c.791A>G
  • LRG_218:g.14436A>G
  • LRG_218p1:p.Gln264Arg
  • NC_000002.11:g.47639698A>G
  • NM_000251.1:c.791A>G
  • NM_000251.2:c.791A>G
Protein change:
Q198R
Links:
dbSNP: rs730881780
NCBI 1000 Genomes Browser:
rs730881780
Molecular consequence:
  • NM_000251.3:c.791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.593A>G - 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
SCV000211242GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 9, 2014) 		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, SCV000211242.9

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

Description

This variant is denoted MSH2 c.791A>G at the cDNA level, p.Gln264Arg (Q264R) at the protein level, and results in the change of a Glutamine to an Arginine (CAG>CGG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH2 Gln264Arg was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Glutamine and Arginine differ in some properties, this is considered a semi-conservative amino acid substitution. MSH2 Gln264Arg occurs at a position that is well conserved across species and is located in the connector domain (Lutzen 2008). 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 Gln264Arg is pathogenic or benign. 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: Sep 29, 2024