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NM_000251.3(MSH2):c.1125_1126insAT (p.Leu376fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 25, 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:
RCV000166624.1

Allele description

NM_000251.3(MSH2):c.1125_1126insAT (p.Leu376fs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.1125_1126insAT (p.Leu376fs)
HGVS:
  • NC_000002.12:g.47429790_47429791insAT
  • NG_007110.2:g.31667_31668insAT
  • NM_000251.3:c.1125_1126insATMANE SELECT
  • NM_001258281.1:c.927_928insAT
  • NP_000242.1:p.Leu376fs
  • NP_001245210.1:p.Leu310fs
  • LRG_218:g.31667_31668insAT
  • NC_000002.11:g.47656929_47656930insAT
  • NM_000251.1:c.1125_1126insAT
  • p.L376IFS*37
Protein change:
L310fs
Links:
dbSNP: rs786203350
NCBI 1000 Genomes Browser:
rs786203350
Molecular consequence:
  • NM_000251.3:c.1125_1126insAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258281.1:c.927_928insAT - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000217428Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Pathogenic
(Oct 25, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000217428.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.1125_1126insAT pathogenic mutation, located in coding exon 7 of the MSH2 gene, results from an insertion of two nucleotides between positions 1125 and 1126, causing a translational frameshift with a predicted alternate stop codon. This mutation has been reported in a Russian family fulfilling<span data-redactor="verified" style="background-color: initial;">the Amsterdam criteria for HNPCC (<span data-redactor="verified" style="background-color: initial;">Maliaka, YK et al. Hum Genet. 1996 Feb;97(2):251-5). In addition to the clinical data presented in the literature, s<span data-redactor="verified" style="background-color: initial;">ince frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 5, 2022