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NM_000179.3(MSH6):c.3554_3556+2del AND Lynch syndrome 5

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 24, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003449999.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3554_3556+2del]

NM_000179.3(MSH6):c.3554_3556+2del

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3554_3556+2del
HGVS:
  • NC_000002.12:g.47805025_47805029del
  • NG_007111.1:g.26879_26883del
  • NG_008397.1:g.105649_105653del
  • NM_000179.3:c.3554_3556+2delMANE SELECT
  • NM_001281492.2:c.3164_3166+2del
  • NM_001281493.2:c.2648_2650+2del
  • NM_001281494.2:c.2648_2650+2del
  • LRG_219:g.26879_26883del
  • NC_000002.11:g.48032164_48032168del
Links:
dbSNP: rs2104510085
NCBI 1000 Genomes Browser:
rs2104510085
Molecular consequence:
  • NM_000179.3:c.3554_3556+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001281492.2:c.3164_3166+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001281493.2:c.2648_2650+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001281494.2:c.2648_2650+2del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Lynch syndrome 5 (LYNCH5)
Synonyms:
Colorectal cancer, hereditary nonpolyposis, type 5; 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
SCV004189313Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))
Likely pathogenic
(Aug 24, 2023)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004189313.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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

Last Updated: Oct 8, 2024