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NM_000179.3(MSH6):c.1866dup (p.Pro623fs) AND Lynch syndrome 5

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Aug 16, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002244287.3

Allele description [Variation Report for NM_000179.3(MSH6):c.1866dup (p.Pro623fs)]

NM_000179.3(MSH6):c.1866dup (p.Pro623fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.1866dup (p.Pro623fs)
HGVS:
  • NC_000002.12:g.47799849dup
  • NG_007111.1:g.21703dup
  • NM_000179.3:c.1866dupMANE SELECT
  • NM_001281492.2:c.1476dup
  • NM_001281493.2:c.960dup
  • NM_001281494.2:c.960dup
  • NP_000170.1:p.Pro623fs
  • NP_001268421.1:p.Pro493fs
  • NP_001268422.1:p.Pro321fs
  • NP_001268423.1:p.Pro321fs
  • LRG_219:g.21703dup
  • NC_000002.11:g.48026988dup
  • NM_000179.3:c.1866dupAMANE SELECT
Protein change:
P321fs
Links:
dbSNP: rs2104372581
NCBI 1000 Genomes Browser:
rs2104372581
Molecular consequence:
  • NM_000179.3:c.1866dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.1476dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.960dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.960dup - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002512746Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jul 6, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004187337Myriad 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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512746.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PVS1 very strong, PM2 moderate

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Myriad Genetics, Inc., SCV004187337.1

#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