NM_000179.3(MSH6):c.3439-10T>A AND Hereditary nonpolyposis colorectal cancer type 5

Clinical significance:Uncertain significance (Last evaluated: Sep 19, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410182.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3439-10T>A]

NM_000179.3(MSH6):c.3439-10T>A

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3439-10T>A
HGVS:
  • NC_000002.12:g.47804900T>A
  • NG_007111.1:g.26754T>A
  • NM_000179.3:c.3439-10T>AMANE SELECT
  • NM_001281492.2:c.3049-10T>A
  • NM_001281493.2:c.2533-10T>A
  • NM_001281494.2:c.2533-10T>A
  • LRG_219t1:c.3439-10T>A
  • LRG_219:g.26754T>A
  • NC_000002.11:g.48032039T>A
  • NM_000179.2:c.3439-10T>A
Links:
dbSNP: rs730881819
NCBI 1000 Genomes Browser:
rs730881819
Molecular consequence:
  • NM_000179.3:c.3439-10T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281492.2:c.3049-10T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281493.2:c.2533-10T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281494.2:c.2533-10T>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary nonpolyposis colorectal cancer type 5 (HNPCC5)
Synonyms:
Hereditary non-polyposis colorectal cancer, type 5
Identifiers:
MONDO: MONDO:0013710; MedGen: C1833477; Orphanet: 144; OMIM: 614350

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000489332Counsylcriteria provided, single submitter
Uncertain significance
(Sep 19, 2016)
unknownclinical testing

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

Details of each submission

From Counsyl, SCV000489332.1

#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 27, 2021

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