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NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs) AND Lynch syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 5, 2013
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000074655.3

Allele description [Variation Report for NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)]

NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)
HGVS:
  • NC_000002.12:g.47799404_47799405dup
  • NG_007111.1:g.21258_21259dup
  • NM_000179.3:c.1421_1422dupMANE SELECT
  • NM_001281492.2:c.1031_1032dup
  • NM_001281493.2:c.515_516dup
  • NM_001281494.2:c.515_516dup
  • NP_000170.1:p.Gln475fs
  • NP_001268421.1:p.Gln345fs
  • NP_001268422.1:p.Gln173fs
  • NP_001268423.1:p.Gln173fs
  • LRG_219:g.21258_21259dup
  • NC_000002.11:g.48026541_48026542insGT
  • NC_000002.11:g.48026543_48026544dup
  • NM_000179.2:c.1421_1422dupTG
  • NM_000179.3:c.1421_1422dup
Protein change:
Q173fs
Links:
dbSNP: rs63750854
NCBI 1000 Genomes Browser:
rs63750854
Molecular consequence:
  • NM_000179.3:c.1421_1422dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.1031_1032dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.515_516dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.515_516dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Lynch syndrome
Identifiers:
MONDO: MONDO:0005835; MedGen: C4552100

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000107857International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
reviewed by expert panel

(Guidelines v1.9)		Pathogenic
(Sep 5, 2013) 		germlineresearch

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000107857.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Coding sequence variation resulting in a stop codon

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

Last Updated: Mar 5, 2024