NM_000251.3(MSH2):c.280del (p.Leu94fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 3, 2020
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:: RCV002441688.2

Allele description [Variation Report for NM_000251.3(MSH2):c.280del (p.Leu94fs)]

NM_000251.3(MSH2):c.280del (p.Leu94fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.280del (p.Leu94fs)

HGVS:

NC_000002.12:g.47408469del
NG_007110.2:g.10346del
NM_000251.3:c.280delMANE SELECT
NM_001258281.1:c.82del
NM_001406631.1:c.280delC
NM_001406632.1:c.280delC
NM_001406633.1:c.280delC
NM_001406634.1:c.280delC
NM_001406635.1:c.280delC
NM_001406636.1:c.280delC
NM_001406637.1:c.280delC
NM_001406638.1:c.280delC
NM_001406639.1:c.280delC
NM_001406640.1:c.280delC
NM_001406641.1:c.280delC
NM_001406642.1:c.280delC
NM_001406643.1:c.280delC
NM_001406644.1:c.280delC
NM_001406645.1:c.280delC
NM_001406646.1:c.280delC
NM_001406647.1:c.280delC
NM_001406648.1:c.280delC
NM_001406649.1:c.280delC
NM_001406650.1:c.280delC
NM_001406651.1:c.280delC
NM_001406652.1:c.280delC
NM_001406653.1:c.220delC
NM_001406655.1:c.280delC
NM_001406656.1:c.-716delC
NM_001406657.1:c.280delC
NM_001406658.1:c.-1039delC
NM_001406659.1:c.-1189delC
NM_001406660.1:c.-1386delC
NM_001406661.1:c.-1341delC
NM_001406662.1:c.-1258delC
NM_001406666.1:c.280delC
NM_001406669.1:c.-1189delC
NM_001406672.1:c.280delC
NM_001406674.1:c.280delC
NP_000242.1:p.Leu94Trpfs
NP_000242.1:p.Leu94fs
NP_001245210.1:p.Leu28fs
NP_001393560.1:p.Leu94Trpfs
NP_001393561.1:p.Leu94Trpfs
NP_001393562.1:p.Leu94Trpfs
NP_001393563.1:p.Leu94Trpfs
NP_001393564.1:p.Leu94Trpfs
NP_001393565.1:p.Leu94Trpfs
NP_001393566.1:p.Leu94Trpfs
NP_001393567.1:p.Leu94Trpfs
NP_001393568.1:p.Leu94Trpfs
NP_001393569.1:p.Leu94Trpfs
NP_001393570.1:p.Leu94Trpfs
NP_001393571.1:p.Leu94Trpfs
NP_001393572.1:p.Leu94Trpfs
NP_001393573.1:p.Leu94Trpfs
NP_001393574.1:p.Leu94Trpfs
NP_001393575.1:p.Leu94Trpfs
NP_001393576.1:p.Leu94Trpfs
NP_001393577.1:p.Leu94Trpfs
NP_001393578.1:p.Leu94Trpfs
NP_001393579.1:p.Leu94Trpfs
NP_001393580.1:p.Leu94Trpfs
NP_001393581.1:p.Leu94Trpfs
NP_001393582.1:p.Leu74Trpfs
NP_001393584.1:p.Leu94Trpfs
NP_001393586.1:p.Leu94Trpfs
NP_001393595.1:p.Leu94Trpfs
NP_001393601.1:p.Leu94Trpfs
NP_001393603.1:p.Leu94Trpfs
LRG_218t1:c.280del
LRG_218:g.10346del
LRG_218p1:p.Leu94Trpfs
NC_000002.11:g.47635608del
NM_000251.1:c.280delC
NM_000251.2:c.280delC
NR_176230.1:n.316delC
NR_176231.1:n.316delC
NR_176232.1:n.316delC
NR_176233.1:n.308delC
NR_176234.1:n.316delC
NR_176235.1:n.316delC
NR_176236.1:n.316delC
NR_176237.1:n.316delC
NR_176238.1:n.316delC
NR_176239.1:n.316delC
NR_176240.1:n.316delC
NR_176241.1:n.316delC
NR_176242.1:n.316delC
NR_176243.1:n.316delC
NR_176244.1:n.316delC
NR_176245.1:n.316delC
NR_176246.1:n.316delC
NR_176247.1:n.316delC
NR_176248.1:n.316delC
NR_176249.1:n.316delC
NR_176250.1:n.316delC

Protein change:

L28fs

Molecular consequence:

NM_000251.3:c.280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.82del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406632.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406633.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406634.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406635.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406636.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406637.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406639.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406640.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406642.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406643.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406644.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406645.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406646.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406647.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406648.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406651.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406652.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406653.1:c.220delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406655.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406657.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406666.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406672.1:c.280delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406674.1:c.280delC - 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
SCV002749340	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Feb 3, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002749340

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Feb 3, 2020)

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, SCV002749340.2

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

Description

The c.280delC pathogenic mutation, located in coding exon 2 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 280, causing a translational frameshift with a predicted alternate stop codon (p.L94W*80). 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: May 1, 2024

ClinVar

Relating variation to medicine