NM_002439.5(MSH3):c.465dup (p.Leu156fs) AND Familial adenomatous polyposis 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 31, 2024
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:: RCV004791905.1

Allele description [Variation Report for NM_002439.5(MSH3):c.465dup (p.Leu156fs)]

NM_002439.5(MSH3):c.465dup (p.Leu156fs)

Gene:

MSH3:mutS homolog 3 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

5q14.1

Genomic location:

Preferred name:

NM_002439.5(MSH3):c.465dup (p.Leu156fs)

HGVS:

NC_000005.10:g.80665249dup
NG_016607.2:g.15775dup
NM_002439.5:c.465dupMANE SELECT
NP_002430.3:p.Leu156fs
NC_000005.9:g.79961068dup

Protein change:

L156fs

Molecular consequence:

NM_002439.5:c.465dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005404948	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jul 31, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005404948

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Jul 31, 2024)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV005404948.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 30, 2024

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