NM_002439.5(MSH3):c.1148dup (p.Asn385fs) 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:: RCV003458523.1

Allele description [Variation Report for NM_002439.5(MSH3):c.1148dup (p.Asn385fs)]

NM_002439.5(MSH3):c.1148dup (p.Asn385fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

5q14.1

Genomic location:

Preferred name:

NM_002439.5(MSH3):c.1148dup (p.Asn385fs)

HGVS:

NC_000005.10:g.80675103dup
NG_016607.2:g.25629dup
NM_002439.5:c.1148dupMANE SELECT
NP_002430.3:p.Asn385fs
NC_000005.9:g.79970914_79970915insA
NC_000005.9:g.79970922dup
NG_016607.1:g.25629dup
NM_002439.3:c.1148dupA
NM_002439.4:c.1148dup
NM_002439.4:c.1148dupA

Protein change:

N385fs

Links:

dbSNP: rs587776701

NCBI 1000 Genomes Browser:

rs587776701

Molecular consequence:

NM_002439.5:c.1148dup - 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
SCV004189048	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Aug 29, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004189048

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Aug 29, 2023)

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., SCV004189048.1

#	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: Oct 20, 2024

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