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NM_000179.3(MSH6):c.2239del (p.Phe746_Leu747insTer) AND Lynch syndrome 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 16, 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:
RCV003453717.1

Allele description [Variation Report for NM_000179.3(MSH6):c.2239del (p.Phe746_Leu747insTer)]

NM_000179.3(MSH6):c.2239del (p.Phe746_Leu747insTer)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.2239del (p.Phe746_Leu747insTer)
HGVS:
  • NC_000002.12:g.47800222del
  • NG_007111.1:g.22076del
  • NM_000179.3:c.2239delMANE SELECT
  • NM_001281492.2:c.1849del
  • NM_001281493.2:c.1333del
  • NM_001281494.2:c.1333del
  • NP_000170.1:p.Phe746_Leu747insTer
  • NP_001268421.1:p.Phe616_Leu617insTer
  • NP_001268422.1:p.Phe444_Leu445insTer
  • NP_001268423.1:p.Phe444_Leu445insTer
  • LRG_219:g.22076del
  • NC_000002.11:g.48027361del
  • NC_000002.11:g.48027361delC
  • NM_000179.2:c.2239delC
Links:
dbSNP: rs1572726309
NCBI 1000 Genomes Browser:
rs1572726309
Molecular consequence:
  • NM_000179.3:c.2239del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281492.2:c.1849del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281493.2:c.1333del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281494.2:c.1333del - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004187198Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Aug 16, 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., SCV004187198.1

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

Description

This variant is considered pathogenic. This variant creates a termination codon and is 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