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NM_000251.3(MSH2):c.212-3_213del AND Lynch syndrome 1

Germline classification:
Uncertain significance (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:
RCV000986645.1

Allele description [Variation Report for NM_000251.3(MSH2):c.212-3_213del]

NM_000251.3(MSH2):c.212-3_213del

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.212-3_213del
HGVS:
  • NC_000002.12:g.47408398_47408402del
  • NG_007110.2:g.10275_10279del
  • NM_000251.3:c.212-3_213delMANE SELECT
  • NM_001258281.1:c.14-3_15del
  • LRG_218:g.10275_10279del
  • NC_000002.11:g.47635537_47635541del
  • NC_000002.11:g.47635537_47635541delAAGGA
Links:
dbSNP: rs1573436131
NCBI 1000 Genomes Browser:
rs1573436131
Molecular consequence:
  • NM_000251.3:c.212-3_213del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001258281.1:c.14-3_15del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV001135693Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Uncertain significance
(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, SCV001135693.1

#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: Jun 9, 2024