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NM_000251.3(MSH2):c.942+22_942+29del AND Lynch syndrome 1

Germline classification:
Benign (1 submission)
Last evaluated:
May 28, 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:
RCV000986657.1

Allele description [Variation Report for NM_000251.3(MSH2):c.942+22_942+29del]

NM_000251.3(MSH2):c.942+22_942+29del

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.942+22_942+29del
HGVS:
  • NC_000002.12:g.47414440_47414447del
  • NG_007110.2:g.16317_16324del
  • NM_000251.3:c.942+22_942+29delMANE SELECT
  • NM_001258281.1:c.744+22_744+29del
  • LRG_218t1:c.942+3_942+10del
  • LRG_218:g.16317_16324del
  • NC_000002.11:g.47641560_47641567delAAAAAAAA
  • NC_000002.11:g.47641579_47641586del
  • NM_000251.2:c.942+3_942+10del
  • NM_000251.2:c.942+3_942+10delAAAAAAAA
  • NM_000251.3:c.942+22_942+29delAAAAAAAAMANE SELECT
Links:
dbSNP: rs11309117
NCBI 1000 Genomes Browser:
rs11309117
Molecular consequence:
  • NM_000251.3:c.942+22_942+29del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258281.1:c.744+22_744+29del - intron variant - [Sequence Ontology: SO:0001627]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001135712Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001135712.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024