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NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs) AND Lynch syndrome 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 28, 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:
RCV003453748.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)]

NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)
HGVS:
  • NC_000002.11:g.48033708_48033709insATCT
  • NC_000002.12:g.47806570_47806573dup
  • NG_007111.1:g.28424_28427dup
  • NG_008397.1:g.104103_104106dup
  • NM_000179.3:c.3920_3923dupMANE SELECT
  • NM_001281492.2:c.3530_3533dup
  • NM_001281493.2:c.3014_3017dup
  • NM_001281494.2:c.3014_3017dup
  • NP_000170.1:p.Pro1309fs
  • NP_001268421.1:p.Pro1179fs
  • NP_001268422.1:p.Pro1007fs
  • NP_001268423.1:p.Pro1007fs
  • LRG_219t1:c.3923_3924insATCT
  • LRG_219:g.28424_28427dup
  • NC_000002.11:g.48033708_48033709insATCT
  • NC_000002.11:g.48033709_48033712dup
  • NC_000002.11:g.48033709_48033712dup
  • NC_000002.11:g.48033712_48033713insATCT
  • NM_000179.2:c.3920_3923dupATCT
  • NM_000179.2:c.3923_3924insATCT
  • p.Pro1309SerfsX11
Protein change:
P1007fs
Links:
dbSNP: rs1572747278
NCBI 1000 Genomes Browser:
rs1572747278
Molecular consequence:
  • NM_000179.3:c.3920_3923dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.3530_3533dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.3014_3017dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.3014_3017dup - 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
SCV004185751Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Aug 28, 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., SCV004185751.1

#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