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NM_000251.2(MSH2):c.-118_-116delTTGinsCTT AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 7, 2019
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:
RCV002330381.9

Allele description [Variation Report for NM_000251.2(MSH2):c.-118_-116delTTGinsCTT]

NM_000251.2(MSH2):c.-118_-116delTTGinsCTT

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.2(MSH2):c.-118_-116delTTGinsCTT
HGVS:
  • NC_000002.12:g.47403074_47403076delinsCTT
  • NG_007110.2:g.4951_4953delinsCTT
  • NG_095167.1:g.278_280delinsCTT
  • NM_000251.2:c.-118_-116delTTGinsCTT
  • NM_001258281.1:c.-132_-130delinsCTT
  • LRG_218t1:c.-118_-116delTTGinsCTT
  • LRG_218:g.4951_4953delinsCTT
  • NC_000002.11:g.47630213_47630215delinsCTT
  • NM_000251.1:c.-118_-116delTTGinsCTT
Molecular consequence:
  • NM_001258281.1:c.-132_-130delinsCTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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
SCV002633454Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 7, 2019) 		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, SCV002633454.2

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

Description

The c.-118_-116delTTGinsCTT variant, located in in the 5' untranslated region (5’UTR) of the MSH2 gene, results from the deletion of 3 nucleotides and the insertion of 3 nucleotides at nucleotide positions -118 to -116. 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: Oct 20, 2024