NM_000251.3(MSH2):c.792+5A>G AND Lynch syndrome I

Clinical significance:Uncertain significance (Last evaluated: Aug 5, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410638.1

Allele description [Variation Report for NM_000251.3(MSH2):c.792+5A>G]

NM_000251.3(MSH2):c.792+5A>G

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.792+5A>G
HGVS:
  • NC_000002.12:g.47412565A>G
  • NG_007110.2:g.14442A>G
  • NM_000251.3:c.792+5A>GMANE SELECT
  • NM_001258281.1:c.594+5A>G
  • LRG_218t1:c.792+5A>G
  • LRG_218:g.14442A>G
  • NC_000002.11:g.47639704A>G
  • NM_000251.1:c.792+5A>G
  • NM_000251.2:c.792+5A>G
Links:
dbSNP: rs267607935
NCBI 1000 Genomes Browser:
rs267607935
Molecular consequence:
  • NM_000251.3:c.792+5A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258281.1:c.594+5A>G - 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
SCV000489026Counsylcriteria provided, single submitter
Uncertain significance
(Aug 5, 2016)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

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

Citations

PubMed

Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.

Fearnhead NS, Wilding JL, Winney B, Tonks S, Bartlett S, Bicknell DC, Tomlinson IP, Mortensen NJ, Bodmer WF.

Proc Natl Acad Sci U S A. 2004 Nov 9;101(45):15992-7. Epub 2004 Nov 1.

PubMed [citation]
PMID:
15520370
PMCID:
PMC528777

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]
PMID:
25525159
PMCID:
PMC4362528

Details of each submission

From Counsyl, SCV000489026.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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