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NM_000251.3(MSH2):c.1759+1G>T AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 31, 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:
RCV002406539.3

Allele description [Variation Report for NM_000251.3(MSH2):c.1759+1G>T]

NM_000251.3(MSH2):c.1759+1G>T

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.1759+1G>T
HGVS:
  • NC_000002.12:g.47471063G>T
  • NG_007110.2:g.72940G>T
  • NM_000251.3:c.1759+1G>TMANE SELECT
  • NM_001258281.1:c.1561+1G>T
  • NM_001406631.1:c.1759+1G>T
  • NM_001406632.1:c.1759+1G>T
  • NM_001406633.1:c.1759+1G>T
  • NM_001406634.1:c.1759+1G>T
  • NM_001406635.1:c.1759+1G>T
  • NM_001406636.1:c.1726+1G>T
  • NM_001406637.1:c.1759+1G>T
  • NM_001406638.1:c.1798+1G>T
  • NM_001406639.1:c.1759+1G>T
  • NM_001406640.1:c.1759+1G>T
  • NM_001406641.1:c.1759+1G>T
  • NM_001406642.1:c.1759+1G>T
  • NM_001406643.1:c.1759+1G>T
  • NM_001406644.1:c.1759+1G>T
  • NM_001406645.1:c.1759+1G>T
  • NM_001406646.1:c.1759+1G>T
  • NM_001406647.1:c.1609+1G>T
  • NM_001406648.1:c.1759+1G>T
  • NM_001406649.1:c.1609+1G>T
  • NM_001406650.1:c.1609+1G>T
  • NM_001406651.1:c.1609+1G>T
  • NM_001406652.1:c.1609+1G>T
  • NM_001406653.1:c.1699+1G>T
  • NM_001406654.1:c.1339+1G>T
  • NM_001406655.1:c.1759+1G>T
  • NM_001406656.1:c.862+1G>T
  • NM_001406657.1:c.1662-3962G>T
  • NM_001406658.1:c.403+1G>T
  • NM_001406659.1:c.403+1G>T
  • NM_001406660.1:c.403+1G>T
  • NM_001406661.1:c.403+1G>T
  • NM_001406662.1:c.403+1G>T
  • NM_001406669.1:c.403+1G>T
  • NM_001406674.1:c.1759+1G>T
  • LRG_218t1:c.1759+1G>T
  • LRG_218:g.72940G>T
  • NC_000002.11:g.47698202G>T
  • NM_000251.1:c.1759+1G>T
  • NM_000251.2:c.1759+1G>T
Links:
dbSNP: rs587779108
NCBI 1000 Genomes Browser:
rs587779108
Molecular consequence:
  • NM_001406657.1:c.1662-3962G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000251.3:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258281.1:c.1561+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406631.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406632.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406633.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406634.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406635.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406636.1:c.1726+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406637.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406638.1:c.1798+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406639.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406640.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406641.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406642.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406643.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406644.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406645.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406646.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406647.1:c.1609+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406648.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406649.1:c.1609+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406650.1:c.1609+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406651.1:c.1609+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406652.1:c.1609+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406653.1:c.1699+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406654.1:c.1339+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406655.1:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406656.1:c.862+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406658.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406659.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406660.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406661.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406662.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406669.1:c.403+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406674.1:c.1759+1G>T - 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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002716612Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Oct 31, 2018) 		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, SCV002716612.2

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

Description

The c.1759+1G>T intronic variant results from a G to T substitution one nucleotide after coding exon 11 of the MSH2 gene. This nucleotide position is highly conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to abolish the native splice donor site, but is predicted to weaken (but not abolish) the efficiency of the native splice donor site by ESEfinder; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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

Last Updated: Jun 9, 2024