NM_002439.5(MSH3):c.424dup (p.Cys142fs) AND Familial adenomatous polyposis 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 29, 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:
RCV003459109.1

Allele description [Variation Report for NM_002439.5(MSH3):c.424dup (p.Cys142fs)]

NM_002439.5(MSH3):c.424dup (p.Cys142fs)

Gene:
MSH3:mutS homolog 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q14.1
Genomic location:
Preferred name:
NM_002439.5(MSH3):c.424dup (p.Cys142fs)
HGVS:
  • NC_000005.10:g.80665208dup
  • NG_016607.2:g.15734dup
  • NM_002439.5:c.424dupMANE SELECT
  • NP_002430.3:p.Cys142fs
  • NC_000005.9:g.79961027dup
Protein change:
C142fs
Molecular consequence:
  • NM_002439.5:c.424dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial adenomatous polyposis 4 (FAP4)
Synonyms:
MSH3-related attenuated familial adenomatous polyposis
Identifiers:
MONDO: MONDO:0044300; MedGen: C4310719; Orphanet: 480536; OMIM: 617100

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004189202Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Aug 29, 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., SCV004189202.1

#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: Jun 17, 2024