NM_000251.3(MSH2):c.1728dup (p.Ile577fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 29, 2018
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:: RCV001012870.2

Allele description [Variation Report for NM_000251.3(MSH2):c.1728dup (p.Ile577fs)]

NM_000251.3(MSH2):c.1728dup (p.Ile577fs)

Gene:

MSH2:mutS homolog 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.1728dup (p.Ile577fs)

HGVS:

NC_000002.12:g.47471031dup
NG_007110.2:g.72908dup
NM_000251.3:c.1728dupMANE SELECT
NM_001258281.1:c.1530dup
NP_000242.1:p.Ile577fs
NP_001245210.1:p.Ile511fs
LRG_218:g.72908dup
NC_000002.11:g.47698170dup
NM_000251.1:c.1728dupC

Protein change:

I511fs

Links:

dbSNP: rs1573560572

NCBI 1000 Genomes Browser:

rs1573560572

Molecular consequence:

NM_000251.3:c.1728dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.1530dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001173383	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Pathogenic (Nov 29, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001173383

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Pathogenic
(Nov 29, 2018)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001173383.3

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

Description

The c.1728dupC pathogenic mutation, located in coding exon 11 of the MSH2 gene, results from a duplication of C at nucleotide position 1728, causing a translational frameshift with a predicted alternate stop codon (p.I577Hfs*3). 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	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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