NM_000251.2(MSH2):c.367-19A>T AND Lynch syndrome I

Clinical significance:Likely benign (Last evaluated: Oct 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412430.1

Allele description [Variation Report for NM_000251.2(MSH2):c.367-19A>T]

NM_000251.2(MSH2):c.367-19A>T

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.2(MSH2):c.367-19A>T
HGVS:
  • NC_000002.12:g.47410075A>T
  • NG_007110.2:g.11952A>T
  • NM_000251.2:c.367-19A>T
  • NM_001258281.1:c.169-19A>T
  • LRG_218t1:c.367-19A>T
  • LRG_218:g.11952A>T
  • NC_000002.11:g.47637214A>T
  • NM_000251.1:c.367-19A>T
Links:
dbSNP: rs730881783
NCBI 1000 Genomes Browser:
rs730881783
Molecular consequence:
  • NM_000251.2:c.367-19A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258281.1:c.169-19A>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000489597Counsylcriteria provided, single submitter
Likely benign
(Oct 25, 2016)
unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Counsyl, SCV000489597.1

#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 14, 2021

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