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NM_000251.3(MSH2):c.1776G>A (p.Met592Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 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:
RCV002403991.2

Allele description [Variation Report for NM_000251.3(MSH2):c.1776G>A (p.Met592Ile)]

NM_000251.3(MSH2):c.1776G>A (p.Met592Ile)

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.1776G>A (p.Met592Ile)
HGVS:
  • NC_000002.12:g.47475041G>A
  • NG_007110.2:g.76918G>A
  • NM_000251.3:c.1776G>AMANE SELECT
  • NM_001258281.1:c.1578G>A
  • NM_001406631.1:c.1776G>A
  • NM_001406632.1:c.1776G>A
  • NM_001406633.1:c.1776G>A
  • NM_001406634.1:c.1776G>A
  • NM_001406635.1:c.1776G>A
  • NM_001406636.1:c.1743G>A
  • NM_001406637.1:c.1776G>A
  • NM_001406638.1:c.1815G>A
  • NM_001406639.1:c.1776G>A
  • NM_001406640.1:c.1776G>A
  • NM_001406641.1:c.1776G>A
  • NM_001406642.1:c.1776G>A
  • NM_001406643.1:c.1776G>A
  • NM_001406644.1:c.1776G>A
  • NM_001406645.1:c.1776G>A
  • NM_001406646.1:c.1776G>A
  • NM_001406647.1:c.1626G>A
  • NM_001406648.1:c.1776G>A
  • NM_001406649.1:c.1626G>A
  • NM_001406650.1:c.1626G>A
  • NM_001406651.1:c.1626G>A
  • NM_001406652.1:c.1626G>A
  • NM_001406653.1:c.1716G>A
  • NM_001406654.1:c.1356G>A
  • NM_001406655.1:c.1776G>A
  • NM_001406656.1:c.879G>A
  • NM_001406657.1:c.1678G>A
  • NM_001406658.1:c.420G>A
  • NM_001406659.1:c.420G>A
  • NM_001406660.1:c.420G>A
  • NM_001406661.1:c.420G>A
  • NM_001406662.1:c.420G>A
  • NM_001406669.1:c.420G>A
  • NM_001406674.1:c.1776G>A
  • NP_000242.1:p.Met592Ile
  • NP_000242.1:p.Met592Ile
  • NP_001245210.1:p.Met526Ile
  • NP_001393560.1:p.Met592Ile
  • NP_001393561.1:p.Met592Ile
  • NP_001393562.1:p.Met592Ile
  • NP_001393563.1:p.Met592Ile
  • NP_001393564.1:p.Met592Ile
  • NP_001393565.1:p.Met581Ile
  • NP_001393566.1:p.Met592Ile
  • NP_001393567.1:p.Met605Ile
  • NP_001393568.1:p.Met592Ile
  • NP_001393569.1:p.Met592Ile
  • NP_001393570.1:p.Met592Ile
  • NP_001393571.1:p.Met592Ile
  • NP_001393572.1:p.Met592Ile
  • NP_001393573.1:p.Met592Ile
  • NP_001393574.1:p.Met592Ile
  • NP_001393575.1:p.Met592Ile
  • NP_001393576.1:p.Met542Ile
  • NP_001393577.1:p.Met592Ile
  • NP_001393578.1:p.Met542Ile
  • NP_001393579.1:p.Met542Ile
  • NP_001393580.1:p.Met542Ile
  • NP_001393581.1:p.Met542Ile
  • NP_001393582.1:p.Met572Ile
  • NP_001393583.1:p.Met452Ile
  • NP_001393584.1:p.Met592Ile
  • NP_001393585.1:p.Met293Ile
  • NP_001393586.1:p.Ala560Thr
  • NP_001393587.1:p.Met140Ile
  • NP_001393588.1:p.Met140Ile
  • NP_001393589.1:p.Met140Ile
  • NP_001393590.1:p.Met140Ile
  • NP_001393591.1:p.Met140Ile
  • NP_001393598.1:p.Met140Ile
  • NP_001393603.1:p.Met592Ile
  • LRG_218t1:c.1776G>A
  • LRG_218:g.76918G>A
  • LRG_218p1:p.Met592Ile
  • NC_000002.11:g.47702180G>A
  • NM_000251.1:c.1776G>A
  • NM_000251.2:c.1776G>A
  • NR_176230.1:n.1812G>A
  • NR_176231.1:n.1812G>A
  • NR_176232.1:n.1812G>A
  • NR_176233.1:n.1654G>A
  • NR_176234.1:n.1812G>A
  • NR_176235.1:n.1812G>A
  • NR_176236.1:n.1812G>A
  • NR_176237.1:n.1812G>A
  • NR_176238.1:n.1945G>A
  • NR_176239.1:n.1812G>A
  • NR_176240.1:n.1812G>A
  • NR_176241.1:n.1812G>A
  • NR_176242.1:n.1812G>A
  • NR_176243.1:n.1662G>A
  • NR_176244.1:n.1812G>A
  • NR_176245.1:n.1812G>A
  • NR_176246.1:n.1812G>A
  • NR_176247.1:n.1812G>A
  • NR_176248.1:n.1812G>A
  • NR_176249.1:n.2042G>A
  • NR_176250.1:n.1552G>A
Protein change:
A560T
Molecular consequence:
  • NM_000251.3:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.1578G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406631.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406632.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406633.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406634.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406635.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406636.1:c.1743G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406637.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406638.1:c.1815G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406639.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406640.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406641.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406642.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406643.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406644.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406645.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406646.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406647.1:c.1626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406648.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406649.1:c.1626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406650.1:c.1626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406651.1:c.1626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406652.1:c.1626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406653.1:c.1716G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406654.1:c.1356G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406655.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406656.1:c.879G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406657.1:c.1678G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406658.1:c.420G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406659.1:c.420G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406660.1:c.420G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406661.1:c.420G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406662.1:c.420G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406669.1:c.420G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406674.1:c.1776G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002711894Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 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, SCV002711894.2

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

Description

The p.M592I variant (also known as c.1776G>A), located in coding exon 12 of the MSH2 gene, results from a G to A substitution at nucleotide position 1776. The methionine at codon 592 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. In addition, this alteration is predicted to be borderline by MAPP-MMR in silico analyses (Chao EC et al. Hum. Mutat. 2008 Jun;29:852-60). 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