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NM_000179.3(MSH6):c.3622dup (p.Ser1208fs) AND Lynch syndrome 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 24, 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:
RCV003451257.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3622dup (p.Ser1208fs)]

NM_000179.3(MSH6):c.3622dup (p.Ser1208fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3622dup (p.Ser1208fs)
HGVS:
  • NC_000002.12:g.47805683dup
  • NG_007111.1:g.27537dup
  • NG_008397.1:g.104994dup
  • NM_000179.3:c.3622dupMANE SELECT
  • NM_001281492.2:c.3232dup
  • NM_001281493.2:c.2716dup
  • NM_001281494.2:c.2716dup
  • NP_000170.1:p.Ser1208fs
  • NP_001268421.1:p.Ser1078fs
  • NP_001268422.1:p.Ser906fs
  • NP_001268423.1:p.Ser906fs
  • LRG_219:g.27537dup
  • NC_000002.11:g.48032820_48032821insT
  • NC_000002.11:g.48032822dup
  • NM_000179.2:c.3622dupT
Protein change:
S1078fs
Links:
dbSNP: rs1553332733
NCBI 1000 Genomes Browser:
rs1553332733
Molecular consequence:
  • NM_000179.3:c.3622dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.3232dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.2716dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.2716dup - 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
SCV004185676Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Aug 24, 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., SCV004185676.1

#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