NM_000251.3(MSH2):c.1850_1851dup (p.Pro618fs) 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:: RCV001013386.3

Allele description [Variation Report for NM_000251.3(MSH2):c.1850_1851dup (p.Pro618fs)]

NM_000251.3(MSH2):c.1850_1851dup (p.Pro618fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.1850_1851dup (p.Pro618fs)

HGVS:

NC_000002.12:g.47475115_47475116dup
NG_007110.2:g.76992_76993dup
NM_000251.3:c.1850_1851dupMANE SELECT
NM_001258281.1:c.1652_1653dup
NP_000242.1:p.Pro618fs
NP_001245210.1:p.Pro552fs
LRG_218:g.76992_76993dup
NC_000002.11:g.47702254_47702255dup
NM_000251.1:c.1850_1851dupTT

Protein change:

P552fs

Links:

dbSNP: rs1573566787

NCBI 1000 Genomes Browser:

rs1573566787

Molecular consequence:

NM_000251.3:c.1850_1851dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.1652_1653dup - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001173965	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Nov 29, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001173965

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001173965.4

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

Description

The c.1850_1851dupTT pathogenic mutation, located in coding exon 12 of the MSH2 gene, results from a duplication of TT at nucleotide position 1850, causing a translational frameshift with a predicted alternate stop codon (p.P618Ffs*18). 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: Jun 9, 2024

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