U.S. flag

An official website of the United States government

NM_000251.3(MSH2):c.1787_1793delinsCATC (p.Asn596_Val598delinsThrSer) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 14, 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:
RCV002404162.2

Allele description [Variation Report for NM_000251.3(MSH2):c.1787_1793delinsCATC (p.Asn596_Val598delinsThrSer)]

NM_000251.3(MSH2):c.1787_1793delinsCATC (p.Asn596_Val598delinsThrSer)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.1787_1793delinsCATC (p.Asn596_Val598delinsThrSer)
HGVS:
  • NC_000002.12:g.47475052_47475058delinsCATC
  • NG_007110.2:g.76929_76935delinsCATC
  • NM_000251.3:c.1787_1793delinsCATCMANE SELECT
  • NM_001258281.1:c.1589_1595delinsCATC
  • NM_001406631.1:c.1787_1793delATGATGTinsCATC
  • NM_001406632.1:c.1787_1793delATGATGTinsCATC
  • NM_001406633.1:c.1787_1793delATGATGTinsCATC
  • NM_001406634.1:c.1787_1793delATGATGTinsCATC
  • NM_001406635.1:c.1787_1793delATGATGTinsCATC
  • NM_001406636.1:c.1754_1760delATGATGTinsCATC
  • NM_001406637.1:c.1787_1793delATGATGTinsCATC
  • NM_001406638.1:c.1826_1832delATGATGTinsCATC
  • NM_001406639.1:c.1787_1793delATGATGTinsCATC
  • NM_001406640.1:c.1787_1793delATGATGTinsCATC
  • NM_001406641.1:c.1787_1793delATGATGTinsCATC
  • NM_001406642.1:c.1787_1793delATGATGTinsCATC
  • NM_001406643.1:c.1787_1793delATGATGTinsCATC
  • NM_001406644.1:c.1787_1793delATGATGTinsCATC
  • NM_001406645.1:c.1787_1793delATGATGTinsCATC
  • NM_001406646.1:c.1787_1793delATGATGTinsCATC
  • NM_001406647.1:c.1637_1643delATGATGTinsCATC
  • NM_001406648.1:c.1787_1793delATGATGTinsCATC
  • NM_001406649.1:c.1637_1643delATGATGTinsCATC
  • NM_001406650.1:c.1637_1643delATGATGTinsCATC
  • NM_001406651.1:c.1637_1643delATGATGTinsCATC
  • NM_001406652.1:c.1637_1643delATGATGTinsCATC
  • NM_001406653.1:c.1727_1733delATGATGTinsCATC
  • NM_001406654.1:c.1367_1373delATGATGTinsCATC
  • NM_001406655.1:c.1787_1793delATGATGTinsCATC
  • NM_001406656.1:c.890_896delATGATGTinsCATC
  • NM_001406657.1:c.1689_*3delATGATGTinsCATC
  • NM_001406658.1:c.431_437delATGATGTinsCATC
  • NM_001406659.1:c.431_437delATGATGTinsCATC
  • NM_001406660.1:c.431_437delATGATGTinsCATC
  • NM_001406661.1:c.431_437delATGATGTinsCATC
  • NM_001406662.1:c.431_437delATGATGTinsCATC
  • NM_001406669.1:c.431_437delATGATGTinsCATC
  • NM_001406674.1:c.1787_1793delATGATGTinsCATC
  • NP_000242.1:p.Asn596_Val598delinsThrSer
  • NP_000242.1:p.Asn596_Val598delinsThrSer
  • NP_001245210.1:p.Asn530_Val532delinsThrSer
  • NP_001393560.1:p.Asn596_Val598delinsThrSer
  • NP_001393561.1:p.Asn596_Val598delinsThrSer
  • NP_001393562.1:p.Asn596_Val598delinsThrSer
  • NP_001393563.1:p.Asn596_Val598delinsThrSer
  • NP_001393564.1:p.Asn596_Val598delinsThrSer
  • NP_001393565.1:p.Asn585_Val587delinsThrSer
  • NP_001393566.1:p.Asn596_Val598delinsThrSer
  • NP_001393567.1:p.Asn609_Val611delinsThrSer
  • NP_001393568.1:p.Asn596_Val598delinsThrSer
  • NP_001393569.1:p.Asn596_Val598delinsThrSer
  • NP_001393570.1:p.Asn596_Val598delinsThrSer
  • NP_001393571.1:p.Asn596_Val598delinsThrSer
  • NP_001393572.1:p.Asn596_Val598delinsThrSer
  • NP_001393573.1:p.Asn596_Val598delinsThrSer
  • NP_001393574.1:p.Asn596_Val598delinsThrSer
  • NP_001393575.1:p.Asn596_Val598delinsThrSer
  • NP_001393576.1:p.Asn546_Val548delinsThrSer
  • NP_001393577.1:p.Asn596_Val598delinsThrSer
  • NP_001393578.1:p.Asn546_Val548delinsThrSer
  • NP_001393579.1:p.Asn546_Val548delinsThrSer
  • NP_001393580.1:p.Asn546_Val548delinsThrSer
  • NP_001393581.1:p.Asn546_Val548delinsThrSer
  • NP_001393582.1:p.Asn576_Val578delinsThrSer
  • NP_001393583.1:p.Asn456_Val458delinsThrSer
  • NP_001393584.1:p.Asn596_Val598delinsThrSer
  • NP_001393585.1:p.Asn297_Val299delinsThrSer
  • NP_001393586.1:p.Gln563_Ter(564_?)(?)
  • NP_001393587.1:p.Asn144_Val146delinsThrSer
  • NP_001393588.1:p.Asn144_Val146delinsThrSer
  • NP_001393589.1:p.Asn144_Val146delinsThrSer
  • NP_001393590.1:p.Asn144_Val146delinsThrSer
  • NP_001393591.1:p.Asn144_Val146delinsThrSer
  • NP_001393598.1:p.Asn144_Val146delinsThrSer
  • NP_001393603.1:p.Asn596_Val598delinsThrSer
  • LRG_218t1:c.1787_1793delATGATGTinsCATC
  • LRG_218:g.76929_76935delinsCATC
  • LRG_218p1:p.Asn596_Val598delinsThrSer
  • NC_000002.11:g.47702191_47702197delinsCATC
  • NM_000251.1:c.1787_1793delATGATGTinsCATC
  • NM_000251.2:c.1787_1793delATGATGTinsCATC
  • NR_176230.1:n.1823_1829delATGATGTinsCATC
  • NR_176231.1:n.1823_1829delATGATGTinsCATC
  • NR_176232.1:n.1823_1829delATGATGTinsCATC
  • NR_176233.1:n.1665_1671delATGATGTinsCATC
  • NR_176234.1:n.1823_1829delATGATGTinsCATC
  • NR_176235.1:n.1823_1829delATGATGTinsCATC
  • NR_176236.1:n.1823_1829delATGATGTinsCATC
  • NR_176237.1:n.1823_1829delATGATGTinsCATC
  • NR_176238.1:n.1956_1962delATGATGTinsCATC
  • NR_176239.1:n.1823_1829delATGATGTinsCATC
  • NR_176240.1:n.1823_1829delATGATGTinsCATC
  • NR_176241.1:n.1823_1829delATGATGTinsCATC
  • NR_176242.1:n.1823_1829delATGATGTinsCATC
  • NR_176243.1:n.1673_1679delATGATGTinsCATC
  • NR_176244.1:n.1823_1829delATGATGTinsCATC
  • NR_176245.1:n.1823_1829delATGATGTinsCATC
  • NR_176246.1:n.1823_1829delATGATGTinsCATC
  • NR_176247.1:n.1823_1829delATGATGTinsCATC
  • NR_176248.1:n.1823_1829delATGATGTinsCATC
  • NR_176249.1:n.2053_2059delATGATGTinsCATC
  • NR_176250.1:n.1563_1569delATGATGTinsCATC
Molecular consequence:
  • NM_000251.3:c.1787_1793delinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001258281.1:c.1589_1595delinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406631.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406632.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406633.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406634.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406635.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406636.1:c.1754_1760delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406637.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406638.1:c.1826_1832delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406639.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406640.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406641.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406642.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406643.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406644.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406645.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406646.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406647.1:c.1637_1643delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406648.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406649.1:c.1637_1643delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406650.1:c.1637_1643delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406651.1:c.1637_1643delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406652.1:c.1637_1643delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406653.1:c.1727_1733delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406654.1:c.1367_1373delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406655.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406656.1:c.890_896delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406658.1:c.431_437delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406659.1:c.431_437delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406660.1:c.431_437delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406661.1:c.431_437delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406662.1:c.431_437delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406669.1:c.431_437delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406674.1:c.1787_1793delATGATGTinsCATC - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV002711387Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 14, 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, SCV002711387.2

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

Description

The c.1787_1793delATGATGTinsCATC variant (also known as p.N596_V598delinsTS), located in coding exon 12 of the MSH2 gene, results from an in-frame deletion of ATGATGT and insertion of CATC at nucleotide positions 1787 to 1793. This results in the deletion of 3 amino acid residues and the insertion of two amino acid residues at codon 596 to 598. The amino acid region is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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: May 1, 2024