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NM_000179.3(MSH6):c.1957_1960dup (p.Met654fs) 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:
RCV003450936.1

Allele description [Variation Report for NM_000179.3(MSH6):c.1957_1960dup (p.Met654fs)]

NM_000179.3(MSH6):c.1957_1960dup (p.Met654fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.1957_1960dup (p.Met654fs)
HGVS:
  • NC_000002.12:g.47799940_47799943dup
  • NG_007111.1:g.21794_21797dup
  • NM_000179.3:c.1957_1960dupMANE SELECT
  • NM_001281492.2:c.1567_1570dup
  • NM_001281493.2:c.1051_1054dup
  • NM_001281494.2:c.1051_1054dup
  • NP_000170.1:p.Met654fs
  • NP_001268421.1:p.Met524fs
  • NP_001268422.1:p.Met352fs
  • NP_001268423.1:p.Met352fs
  • LRG_219:g.21794_21797dup
  • NC_000002.11:g.48027078_48027079insGTGA
  • NC_000002.11:g.48027079_48027082dup
Protein change:
M352fs
Links:
dbSNP: rs63751167
NCBI 1000 Genomes Browser:
rs63751167
Molecular consequence:
  • NM_000179.3:c.1957_1960dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.1567_1570dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.1051_1054dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.1051_1054dup - 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
SCV004185781Myriad 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., SCV004185781.1

#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