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NM_000251.3(MSH2):c.792G>C (p.Gln264His) AND Lynch syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 13, 2018
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000076712.4

Allele description [Variation Report for NM_000251.3(MSH2):c.792G>C (p.Gln264His)]

NM_000251.3(MSH2):c.792G>C (p.Gln264His)

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.792G>C (p.Gln264His)
HGVS:
  • NC_000002.12:g.47412560G>C
  • NG_007110.2:g.14437G>C
  • NM_000251.3:c.792G>CMANE SELECT
  • NM_001258281.1:c.594G>C
  • NP_000242.1:p.Gln264His
  • NP_000242.1:p.Gln264His
  • NP_001245210.1:p.Gln198His
  • LRG_218t1:c.792G>C
  • LRG_218:g.14437G>C
  • LRG_218p1:p.Gln264His
  • NC_000002.11:g.47639699G>C
  • NM_000251.1:c.792G>C
  • NM_000251.2:c.792G>C
Protein change:
Q198H
Links:
dbSNP: rs587779183
NCBI 1000 Genomes Browser:
rs587779183
Molecular consequence:
  • NM_000251.3:c.792G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.594G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lynch syndrome 1
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000107747International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

(Guidelines v2.4)		Uncertain significance
(Jun 13, 2018) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000107747.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Criteria changed for variants in last base of exon therefore downgrade classification

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

Last Updated: Jun 9, 2024