NM_000251.3(MSH2):c.124_127dup (p.Tyr43fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 8, 2013
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:: RCV000131782.3

Allele description [Variation Report for NM_000251.3(MSH2):c.124_127dup (p.Tyr43fs)]

NM_000251.3(MSH2):c.124_127dup (p.Tyr43fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.124_127dup (p.Tyr43fs)

HGVS:

NC_000002.12:g.47403315_47403318dup
NG_007110.2:g.5192_5195dup
NM_000251.3:c.124_127dupMANE SELECT
NM_001258281.1:c.-30-45_-30-42dup
NP_000242.1:p.Tyr43fs
LRG_218:g.5192_5195dup
NC_000002.11:g.47630454_47630457dup
NM_000251.1:c.123_124insTTCT

Protein change:

Y43fs

Links:

dbSNP: rs587782561

NCBI 1000 Genomes Browser:

rs587782561

Molecular consequence:

NM_000251.3:c.124_127dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.-30-45_-30-42dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000186829	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Pathogenic (May 8, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000186829

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Pathogenic
(May 8, 2013)

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, SCV000186829.6

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

Description

This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediatedâ€¯mRNAâ€¯decay.â€¯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: Jun 23, 2024

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