NM_000251.3(MSH2):c.942+24_942+29del AND Lynch syndrome I

Clinical significance:Uncertain significance (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000986662.1

Allele description [Variation Report for NM_000251.3(MSH2):c.942+24_942+29del]

NM_000251.3(MSH2):c.942+24_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+24_942+29del
HGVS:
  • NC_000002.11:g.47641581_47641586delAAAAAA
  • NC_000002.12:g.47414421_47414426del
  • NC_000002.12:g.47414442_47414447del
  • NG_007110.2:g.16319_16324del
  • NM_000251.3:c.942+24_942+29delMANE SELECT
  • NM_001258281.1:c.744+24_744+29del
  • LRG_218t1:c.942+24_942+29del
  • LRG_218:g.16319_16324del
  • NC_000002.11:g.47641560_47641565delAAAAAA
  • NC_000002.11:g.47641581_47641586del
  • NC_000002.11:g.47641581_47641586delAAAAAA
  • NM_000251.1:c.942+3_942+8delAAAAAA
  • NM_000251.2:c.942+24_942+29del
Links:
dbSNP: rs11309117
NCBI 1000 Genomes Browser:
rs11309117

Condition(s)

Name:
Lynch syndrome I (COCA1)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001135719Mendelicscriteria provided, single submitter
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001135719.1

#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 10, 2021

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