NM_000179.2(MSH6):c.260+22C>G 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:
1 submission [Details]
Record status:
current
Accession:
RCV000074760.2

Allele description [Variation Report for NM_000179.2(MSH6):c.260+22C>G]

NM_000179.2(MSH6):c.260+22C>G

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.260+22C>G
HGVS:
  • NC_000002.12:g.47783515C>G
  • NG_007111.1:g.5369C>G
  • NM_000179.2:c.260+22C>G
  • NM_001281492.1:c.237+45C>G
  • NM_001281493.1:c.-477+22C>G
  • LRG_219t1:c.260+22C>G
  • LRG_219:g.5369C>G
  • NC_000002.11:g.48010654C>G
Links:
dbSNP: rs55927047
NCBI 1000 Genomes Browser:
rs55927047
Molecular consequence:
  • NM_000179.2:c.260+22C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281492.1:c.237+45C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281493.1:c.-477+22C>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000107970International Society for Gastrointestinal Hereditary Tumours (InSiGHT)reviewed by expert panel
no known pathogenicity
(Sep 5, 2013)
germlineresearch

Citation Link

Description

SCV000107970

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000107970.2

#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

Last Updated: Sep 18, 2021

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