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NM_000179.3(MSH6):c.3556+2T>G 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:
RCV003454120.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3556+2T>G]

NM_000179.3(MSH6):c.3556+2T>G

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.3556+2T>G
HGVS:
  • NC_000002.12:g.47805029T>G
  • NG_007111.1:g.26883T>G
  • NG_008397.1:g.105647A>C
  • NM_000179.3:c.3556+2T>GMANE SELECT
  • NM_001281492.2:c.3166+2T>G
  • NM_001281493.2:c.2650+2T>G
  • NM_001281494.2:c.2650+2T>G
  • NM_001406795.1:c.3652+2T>G
  • NM_001406796.1:c.3556+2T>G
  • NM_001406797.1:c.3259+2T>G
  • NM_001406798.1:c.3382+2T>G
  • NM_001406799.1:c.3031+2T>G
  • NM_001406800.1:c.3556+2T>G
  • NM_001406801.1:c.3259+2T>G
  • NM_001406802.1:c.3652+2T>G
  • NM_001406803.1:c.2692+2T>G
  • NM_001406804.1:c.3478+2T>G
  • NM_001406805.1:c.3259+2T>G
  • NM_001406806.1:c.3031+2T>G
  • NM_001406807.1:c.3031+2T>G
  • NM_001406808.1:c.3556+2T>G
  • NM_001406809.1:c.3556+2T>G
  • NM_001406811.1:c.2650+2T>G
  • NM_001406812.1:c.2650+2T>G
  • NM_001406813.1:c.3562+2T>G
  • NM_001406814.1:c.2650+2T>G
  • NM_001406815.1:c.2650+2T>G
  • NM_001406816.1:c.2650+2T>G
  • NM_001406817.1:c.1990+2T>G
  • NM_001406818.1:c.3259+2T>G
  • NM_001406819.1:c.3259+2T>G
  • NM_001406820.1:c.3259+2T>G
  • NM_001406821.1:c.3259+2T>G
  • NM_001406822.1:c.3259+2T>G
  • NM_001406823.1:c.2650+2T>G
  • NM_001406824.1:c.3259+2T>G
  • NM_001406825.1:c.3259+2T>G
  • NM_001406826.1:c.3388+2T>G
  • NM_001406827.1:c.3259+2T>G
  • NM_001406828.1:c.3259+2T>G
  • NM_001406829.1:c.2650+2T>G
  • NM_001406830.1:c.3259+2T>G
  • NM_001406831.1:c.337+2T>G
  • NM_001406832.1:c.403+2T>G
  • NM_001407362.1:c.1501+2T>G
  • LRG_219t1:c.3556+2T>G
  • LRG_219:g.26883T>G
  • NC_000002.11:g.48032168T>G
  • NM_000179.2:c.3556+2T>G
Molecular consequence:
  • NM_000179.3:c.3556+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001281492.2:c.3166+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001281493.2:c.2650+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001281494.2:c.2650+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406795.1:c.3652+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406796.1:c.3556+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406797.1:c.3259+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406798.1:c.3382+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406799.1:c.3031+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406800.1:c.3556+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406801.1:c.3259+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406802.1:c.3652+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406803.1:c.2692+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406804.1:c.3478+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406805.1:c.3259+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406806.1:c.3031+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406807.1:c.3031+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406808.1:c.3556+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406809.1:c.3556+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406811.1:c.2650+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406812.1:c.2650+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406813.1:c.3562+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406814.1:c.2650+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406815.1:c.2650+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406816.1:c.2650+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406817.1:c.1990+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406818.1:c.3259+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406819.1:c.3259+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406820.1:c.3259+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406821.1:c.3259+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406822.1:c.3259+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406823.1:c.2650+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406824.1:c.3259+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406825.1:c.3259+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406826.1:c.3388+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406827.1:c.3259+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406828.1:c.3259+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406829.1:c.2650+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406830.1:c.3259+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406831.1:c.337+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406832.1:c.403+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407362.1:c.1501+2T>G - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004189269Myriad 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

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004189269.1

#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