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NM_000251.3(MSH2):c.792G>A (p.Gln264=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 30, 2022
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:
RCV002417988.2

Allele description [Variation Report for NM_000251.3(MSH2):c.792G>A (p.Gln264=)]

NM_000251.3(MSH2):c.792G>A (p.Gln264=)

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.792G>A (p.Gln264=)
HGVS:
  • NC_000002.12:g.47412560G>A
  • NG_007110.2:g.14437G>A
  • NM_000251.3:c.792G>AMANE SELECT
  • NM_001258281.1:c.594G>A
  • NP_000242.1:p.Gln264=
  • NP_000242.1:p.Gln264=
  • NP_001245210.1:p.Gln198=
  • LRG_218t1:c.792G>A
  • LRG_218:g.14437G>A
  • LRG_218p1:p.Gln264=
  • NC_000002.11:g.47639699G>A
  • NM_000251.1:c.792G>A
  • NM_000251.2:c.792G>A
Links:
dbSNP: rs587779183
NCBI 1000 Genomes Browser:
rs587779183
Molecular consequence:
  • NM_000251.3:c.792G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001258281.1:c.594G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002676984Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 30, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002676984.2

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

Description

The c.792G>A variant (also known as p.Q264Q) is located in coding exon 4 of the MSH2 gene. This variant results from a G to A substitution at nucleotide position 792. This nucleotide substitution does not change the glutamine at codon 264. However, this change occurs in the last base pair of coding exon 4, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024