NM_002439.5(MSH3):c.1148dup (p.Asn385fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 17, 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:: RCV002458441.2

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:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002617373	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002617373

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 17, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002617373.2

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

Description

The c.1148dupA pathogenic mutation, located in coding exon 7 of the MSH3 gene, results from a duplication of A at nucleotide position 1148, causing a translational frameshift with a predicted alternate stop codon (p.N385Qfs*19). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine