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NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer) 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:
RCV003449197.1

Allele description [Variation Report for NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer)]

NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer)
HGVS:
  • NC_000002.12:g.47800011_47800012del
  • NG_007111.1:g.21865_21866del
  • NM_000179.3:c.2028_2029delMANE SELECT
  • NM_001281492.2:c.1638_1639del
  • NM_001281493.2:c.1122_1123del
  • NM_001281494.2:c.1122_1123del
  • NP_000170.1:p.Lys676_Ser677insTer
  • NP_000170.1:p.Lys676_Ser677insTer
  • NP_001268421.1:p.Lys546_Ser547insTer
  • NP_001268422.1:p.Lys374_Ser375insTer
  • NP_001268423.1:p.Lys374_Ser375insTer
  • LRG_219t1:c.2028_2029del
  • LRG_219:g.21865_21866del
  • LRG_219p1:p.Lys676_Ser677insTer
  • NC_000002.11:g.48027148_48027149del
  • NC_000002.11:g.48027150_48027151del
  • NM_000179.2:c.2028_2029del
  • NM_000179.2:c.2028_2029delAA
Links:
dbSNP: rs1064794055
NCBI 1000 Genomes Browser:
rs1064794055
Molecular consequence:
  • NM_000179.3:c.2028_2029del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.1638_1639del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.1122_1123del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.1122_1123del - 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
SCV004188224Myriad 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

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004188224.1

#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