U.S. flag

An official website of the United States government

NM_000251.3(MSH2):c.792+2T>G AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 6, 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:
RCV002422644.2

Allele description [Variation Report for NM_000251.3(MSH2):c.792+2T>G]

NM_000251.3(MSH2):c.792+2T>G

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.792+2T>G
HGVS:
  • NC_000002.12:g.47412562T>G
  • NG_007110.2:g.14439T>G
  • NM_000251.3:c.792+2T>GMANE SELECT
  • NM_001258281.1:c.594+2T>G
  • NM_001406631.1:c.792+2T>G
  • NM_001406632.1:c.792+2T>G
  • NM_001406633.1:c.792+2T>G
  • NM_001406634.1:c.792+2T>G
  • NM_001406635.1:c.792+2T>G
  • NM_001406636.1:c.792+2T>G
  • NM_001406637.1:c.792+2T>G
  • NM_001406638.1:c.792+2T>G
  • NM_001406639.1:c.792+2T>G
  • NM_001406640.1:c.792+2T>G
  • NM_001406641.1:c.792+2T>G
  • NM_001406642.1:c.792+2T>G
  • NM_001406643.1:c.792+2T>G
  • NM_001406644.1:c.792+2T>G
  • NM_001406645.1:c.792+2T>G
  • NM_001406646.1:c.792+2T>G
  • NM_001406647.1:c.792+2T>G
  • NM_001406648.1:c.792+2T>G
  • NM_001406649.1:c.792+2T>G
  • NM_001406650.1:c.792+2T>G
  • NM_001406651.1:c.792+2T>G
  • NM_001406652.1:c.792+2T>G
  • NM_001406653.1:c.732+2T>G
  • NM_001406654.1:c.372+2T>G
  • NM_001406655.1:c.792+2T>G
  • NM_001406656.1:c.-204+2T>G
  • NM_001406657.1:c.792+2T>G
  • NM_001406658.1:c.-527+2T>G
  • NM_001406659.1:c.-677+2T>G
  • NM_001406660.1:c.-874+2T>G
  • NM_001406661.1:c.-829+2T>G
  • NM_001406662.1:c.-746+2T>G
  • NM_001406666.1:c.792+2T>G
  • NM_001406669.1:c.-677+2T>G
  • NM_001406672.1:c.792+2T>G
  • NM_001406674.1:c.792+2T>G
  • LRG_218t1:c.792+2T>G
  • LRG_218:g.14439T>G
  • NC_000002.11:g.47639701T>G
  • NM_000251.1:c.792+2T>G
  • NM_000251.2:c.792+2T>G
Links:
dbSNP: rs587782408
NCBI 1000 Genomes Browser:
rs587782408
Molecular consequence:
  • NM_000251.3:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258281.1:c.594+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406631.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406632.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406633.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406634.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406635.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406636.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406637.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406638.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406639.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406640.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406641.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406642.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406643.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406644.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406645.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406646.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406647.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406648.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406649.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406650.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406651.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406652.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406653.1:c.732+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406654.1:c.372+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406655.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406656.1:c.-204+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406657.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406658.1:c.-527+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406659.1:c.-677+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406660.1:c.-874+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406661.1:c.-829+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406662.1:c.-746+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406666.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406669.1:c.-677+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406672.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406674.1:c.792+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002676961Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 6, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002676961.2

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

Description

The c.792+2T>G intronic pathogenic mutation results from a T to G substitution two nucleotides after coding exon 4 in the MSH2 gene. Alterations that disrupt the canonical splice site are expected to result in aberrant splicing. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and may result in the creation or strengthening of a novel splice donor site. The resulting transcript is predicted to be in-frame and is not expected to trigger nonsense-mediated mRNAdecay; however, direct evidence is unavailable. The exact functional effect of the altered amino acid sequence is unknown; however, the impacted region is critical for protein function and a significant portion of the protein is affected (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Jun 9, 2024