NM_000179.2(MSH6):c.-159C>T AND Lynch syndrome

Clinical significance:Benign (Last evaluated: Sep 5, 2013)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000074619.4

Allele description [Variation Report for NM_000179.2(MSH6):c.-159C>T]

NM_000179.2(MSH6):c.-159C>T

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.2(MSH6):c.-159C>T
HGVS:
  • NC_000002.12:g.47783075C>T
  • NG_007111.1:g.4929C>T
  • NM_000179.2:c.-159C>T
  • LRG_219t1:c.-159C>T
  • LRG_219:g.4929C>T
  • NC_000002.11:g.48010214C>T
Links:
dbSNP: rs41540312
NCBI 1000 Genomes Browser:
rs41540312
Molecular consequence:
  • NM_000179.2:c.-159C>T - upstream transcript variant - [Sequence Ontology: SO:0001986]

Condition(s)

Name:
Lynch syndrome
Synonyms:
Familial nonpolyposis colon cancer
Identifiers:
MONDO: MONDO:0005835; MedGen: C4552100; OMIM: PS120435

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000107871International Society for Gastrointestinal Hereditary Tumours (InSiGHT)reviewed by expert panel
no known pathogenicity
(Sep 5, 2013)
germlineresearch

Citation Link,

SCV000483934Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Description

SCV000107871

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, research

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000107871.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

MAF >1%

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV000483934.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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