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NM_000179.3(MSH6):c.123_124del (p.Pro42fs) AND Lynch syndrome 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 9, 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:
RCV003454182.1

Allele description [Variation Report for NM_000179.3(MSH6):c.123_124del (p.Pro42fs)]

NM_000179.3(MSH6):c.123_124del (p.Pro42fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.123_124del (p.Pro42fs)
HGVS:
  • NC_000002.12:g.47783354TC[1]
  • NG_007111.1:g.5208TC[1]
  • NM_000179.3:c.123_124delMANE SELECT
  • NM_001281492.2:c.123_124del
  • NM_001281493.2:c.-616TC[1]
  • NM_001406795.1:c.121_122TC[1]
  • NM_001406796.1:c.121_122TC[1]
  • NM_001406798.1:c.121_122TC[1]
  • NM_001406799.1:c.-208_-207TC[1]
  • NM_001406800.1:c.121_122TC[1]
  • NM_001406802.1:c.121_122TC[1]
  • NM_001406803.1:c.121_122TC[1]
  • NM_001406804.1:c.66_67TC[1]
  • NM_001406807.1:c.-808_-807TC[1]
  • NM_001406808.1:c.121_122TC[1]
  • NM_001406809.1:c.121_122TC[1]
  • NM_001406811.1:c.-616_-615TC[1]
  • NM_001406812.1:c.-463_-462TC[1]
  • NM_001406813.1:c.121_122TC[1]
  • NM_001406814.1:c.-874_-873TC[1]
  • NM_001406816.1:c.-419_-418TC[1]
  • NM_001406817.1:c.121_122TC[1]
  • NM_001407362.1:c.121_122TC[1]
  • NP_000170.1:p.Pro42Phefs
  • NP_000170.1:p.Pro42fs
  • NP_001268421.1:p.Pro42fs
  • NP_001393724.1:p.Pro42Phefs
  • NP_001393725.1:p.Pro42Phefs
  • NP_001393727.1:p.Pro42Phefs
  • NP_001393729.1:p.Pro42Phefs
  • NP_001393731.1:p.Pro42Phefs
  • NP_001393732.1:p.Pro42Phefs
  • NP_001393733.1:p.Leu23Profs
  • NP_001393737.1:p.Pro42Phefs
  • NP_001393738.1:p.Pro42Phefs
  • NP_001393742.1:p.Pro42Phefs
  • NP_001393746.1:p.Pro42Phefs
  • NP_001394291.1:p.Pro42Phefs
  • LRG_219t1:c.121_122TC[1]
  • LRG_219:g.5208TC[1]
  • LRG_219p1:p.Pro42Phefs
  • NC_000002.11:g.48010493TC[1]
  • NM_000179.2:c.121_122TC[1]
  • NM_000179.2:c.123_124delTC
  • NR_176256.1:n.210_211TC[1]
  • NR_176257.1:n.210_211TC[1]
  • NR_176258.1:n.210_211TC[1]
  • NR_176259.1:n.210_211TC[1]
  • NR_176260.1:n.210_211TC[1]
  • NR_176261.1:n.210_211TC[1]
Protein change:
P42fs
Molecular consequence:
  • NM_001281493.2:c.-616TC[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000179.3:c.123_124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.123_124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406795.1:c.121_122TC[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406796.1:c.121_122TC[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406798.1:c.121_122TC[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406800.1:c.121_122TC[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406802.1:c.121_122TC[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406803.1:c.121_122TC[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406804.1:c.66_67TC[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406808.1:c.121_122TC[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406809.1:c.121_122TC[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406813.1:c.121_122TC[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406817.1:c.121_122TC[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407362.1:c.121_122TC[1] - frameshift variant - [Sequence Ontology: SO:0001589]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004188213Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Aug 9, 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., SCV004188213.1

#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