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NM_000179.3(MSH6):c.2287_2404dup (p.Pro802delinsArgTyrLeuProTyrSerPheTrpTer) AND Lynch syndrome 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 17, 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:
RCV003455559.1

Allele description [Variation Report for NM_000179.3(MSH6):c.2287_2404dup (p.Pro802delinsArgTyrLeuProTyrSerPheTrpTer)]

NM_000179.3(MSH6):c.2287_2404dup (p.Pro802delinsArgTyrLeuProTyrSerPheTrpTer)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.2287_2404dup (p.Pro802delinsArgTyrLeuProTyrSerPheTrpTer)
HGVS:
  • NC_000002.12:g.47800270_47800387dup
  • NG_007111.1:g.22124_22241dup
  • NM_000179.3:c.2287_2404dupMANE SELECT
  • NM_001281492.2:c.1897_2014dup
  • NM_001281493.2:c.1381_1498dup
  • NM_001281494.2:c.1381_1498dup
  • NM_001406795.1:c.2383_2500dup
  • NM_001406796.1:c.2287_2404dup
  • NM_001406797.1:c.1990_2107dup
  • NM_001406798.1:c.2287_2404dup
  • NM_001406799.1:c.1762_1879dup
  • NM_001406800.1:c.2287_2404dup
  • NM_001406801.1:c.1990_2107dup
  • NM_001406802.1:c.2383_2500dup
  • NM_001406804.1:c.2209_2326dup
  • NM_001406805.1:c.1990_2107dup
  • NM_001406806.1:c.1762_1879dup
  • NM_001406807.1:c.1762_1879dup
  • NM_001406808.1:c.2287_2404dup
  • NM_001406809.1:c.2287_2404dup
  • NM_001406811.1:c.1381_1498dup
  • NM_001406812.1:c.1381_1498dup
  • NM_001406813.1:c.2293_2410dup
  • NM_001406814.1:c.1381_1498dup
  • NM_001406815.1:c.1381_1498dup
  • NM_001406816.1:c.1381_1498dup
  • NM_001406818.1:c.1990_2107dup
  • NM_001406819.1:c.1990_2107dup
  • NM_001406820.1:c.1990_2107dup
  • NM_001406821.1:c.1990_2107dup
  • NM_001406822.1:c.1990_2107dup
  • NM_001406823.1:c.1381_1498dup
  • NM_001406824.1:c.1990_2107dup
  • NM_001406825.1:c.1990_2107dup
  • NM_001406826.1:c.2119_2236dup
  • NM_001406827.1:c.1990_2107dup
  • NM_001406828.1:c.1990_2107dup
  • NM_001406829.1:c.1381_1498dup
  • NM_001406830.1:c.1990_2107dup
  • NP_000170.1:p.Pro802Argfs
  • NP_000170.1:p.Pro802delinsArgTyrLeuProTyrSerPheTrpTer
  • NP_001268421.1:p.Pro672delinsArgTyrLeuProTyrSerPheTrpTer
  • NP_001268422.1:p.Pro500delinsArgTyrLeuProTyrSerPheTrpTer
  • NP_001268423.1:p.Pro500delinsArgTyrLeuProTyrSerPheTrpTer
  • NP_001393724.1:p.Pro834Argfs
  • NP_001393725.1:p.Pro802Argfs
  • NP_001393726.1:p.Pro703Argfs
  • NP_001393727.1:p.Pro802Argfs
  • NP_001393728.1:p.Pro627Argfs
  • NP_001393729.1:p.Pro802Argfs
  • NP_001393730.1:p.Pro703Argfs
  • NP_001393731.1:p.Pro834Argfs
  • NP_001393733.1:p.Pro776Argfs
  • NP_001393734.1:p.Pro703Argfs
  • NP_001393735.1:p.Pro627Argfs
  • NP_001393736.1:p.Pro627Argfs
  • NP_001393737.1:p.Pro802Argfs
  • NP_001393738.1:p.Pro802Argfs
  • NP_001393740.1:p.Pro500Argfs
  • NP_001393741.1:p.Pro500Argfs
  • NP_001393742.1:p.Pro804Argfs
  • NP_001393743.1:p.Pro500Argfs
  • NP_001393744.1:p.Pro500Argfs
  • NP_001393745.1:p.Pro500Argfs
  • NP_001393747.1:p.Pro703Argfs
  • NP_001393748.1:p.Pro703Argfs
  • NP_001393749.1:p.Pro703Argfs
  • NP_001393750.1:p.Pro703Argfs
  • NP_001393751.1:p.Pro703Argfs
  • NP_001393752.1:p.Pro500Argfs
  • NP_001393753.1:p.Pro703Argfs
  • NP_001393754.1:p.Pro703Argfs
  • NP_001393755.1:p.Pro746Argfs
  • NP_001393756.1:p.Pro703Argfs
  • NP_001393757.1:p.Pro703Argfs
  • NP_001393758.1:p.Pro500Argfs
  • NP_001393759.1:p.Pro703Argfs
  • LRG_219t1:c.2287_2404dup
  • LRG_219:g.22124_22241dup
  • LRG_219p1:p.Pro802Argfs
  • NC_000002.11:g.48027408_48027409insGATACTTGCCATACTCCTTTTGGTAAGCGGCTCCTAAAGCAATGGCTTTGTGCCCCACTCTGTAACCATTATGCTATTAATGATCGTCTAGATGCCATAGAAGACCTCATGGTTGTGC
  • NC_000002.11:g.48027409_48027526dup
  • NM_000179.2:c.2287_2404dup
  • NR_176256.1:n.1149_1266dup
  • NR_176257.1:n.2376_2493dup
  • NR_176258.1:n.2376_2493dup
  • NR_176259.1:n.2376_2493dup
  • NR_176261.1:n.2376_2493dup
Molecular consequence:
  • NM_001406795.1:c.2383_2500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406796.1:c.2287_2404dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406797.1:c.1990_2107dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406798.1:c.2287_2404dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406799.1:c.1762_1879dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406800.1:c.2287_2404dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406801.1:c.1990_2107dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406802.1:c.2383_2500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406804.1:c.2209_2326dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406805.1:c.1990_2107dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406806.1:c.1762_1879dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406807.1:c.1762_1879dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406808.1:c.2287_2404dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406809.1:c.2287_2404dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406811.1:c.1381_1498dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406812.1:c.1381_1498dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406813.1:c.2293_2410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406814.1:c.1381_1498dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406815.1:c.1381_1498dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406816.1:c.1381_1498dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406818.1:c.1990_2107dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406819.1:c.1990_2107dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406820.1:c.1990_2107dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406821.1:c.1990_2107dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406822.1:c.1990_2107dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406823.1:c.1381_1498dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406824.1:c.1990_2107dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406825.1:c.1990_2107dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406826.1:c.2119_2236dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406827.1:c.1990_2107dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406828.1:c.1990_2107dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406829.1:c.1381_1498dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406830.1:c.1990_2107dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000179.3:c.2287_2404dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281492.2:c.1897_2014dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281493.2:c.1381_1498dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281494.2:c.1381_1498dup - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004185646Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Aug 17, 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., SCV004185646.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Oct 8, 2024