NM_000251.3(MSH2):c.2460_2462delinsA (p.Val821fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 23, 2022
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:: RCV002430732.2

Allele description [Variation Report for NM_000251.3(MSH2):c.2460_2462delinsA (p.Val821fs)]

NM_000251.3(MSH2):c.2460_2462delinsA (p.Val821fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.2460_2462delinsA (p.Val821fs)

HGVS:

NC_000002.12:g.47480697_47480699delinsA
NG_007110.2:g.82574_82576delinsA
NM_000251.3:c.2460_2462delinsAMANE SELECT
NM_001258281.1:c.2262_2264delinsA
NM_001406631.1:c.2460_2462delTGTinsA
NM_001406632.1:c.2460_2462delTGTinsA
NM_001406633.1:c.2460_2462delTGTinsA
NM_001406634.1:c.2460_2462delTGTinsA
NM_001406635.1:c.2460_2462delTGTinsA
NM_001406636.1:c.2427_2429delTGTinsA
NM_001406637.1:c.2460_2462delTGTinsA
NM_001406638.1:c.2499_2501delTGTinsA
NM_001406639.1:c.2460_2462delTGTinsA
NM_001406640.1:c.2460_2462delTGTinsA
NM_001406641.1:c.2460_2462delTGTinsA
NM_001406642.1:c.2460_2462delTGTinsA
NM_001406643.1:c.2460_2462delTGTinsA
NM_001406644.1:c.2460_2462delTGTinsA
NM_001406645.1:c.2460_2462delTGTinsA
NM_001406646.1:c.2460_2462delTGTinsA
NM_001406647.1:c.2310_2312delTGTinsA
NM_001406648.1:c.2460_2462delTGTinsA
NM_001406649.1:c.2310_2312delTGTinsA
NM_001406650.1:c.2310_2312delTGTinsA
NM_001406651.1:c.2310_2312delTGTinsA
NM_001406652.1:c.2310_2312delTGTinsA
NM_001406653.1:c.2400_2402delTGTinsA
NM_001406654.1:c.2040_2042delTGTinsA
NM_001406656.1:c.1563_1565delTGTinsA
NM_001406658.1:c.1104_1106delTGTinsA
NM_001406659.1:c.1104_1106delTGTinsA
NM_001406660.1:c.1104_1106delTGTinsA
NM_001406661.1:c.1104_1106delTGTinsA
NM_001406662.1:c.1104_1106delTGTinsA
NM_001406669.1:c.1104_1106delTGTinsA
NM_001406674.1:c.2460_2462delTGTinsA
NP_000242.1:p.Val821Leufs
NP_000242.1:p.Val821fs
NP_001245210.1:p.Val755fs
NP_001393560.1:p.Val821Leufs
NP_001393561.1:p.Val821Leufs
NP_001393562.1:p.Val821Leufs
NP_001393563.1:p.Val821Leufs
NP_001393564.1:p.Val821Leufs
NP_001393565.1:p.Val810Leufs
NP_001393566.1:p.Val821Leufs
NP_001393567.1:p.Val834Leufs
NP_001393568.1:p.Val821Leufs
NP_001393569.1:p.Val821Leufs
NP_001393570.1:p.Val821Leufs
NP_001393571.1:p.Val821Leufs
NP_001393572.1:p.Val821Leufs
NP_001393573.1:p.Val821Leufs
NP_001393574.1:p.Val821Leufs
NP_001393575.1:p.Val821Leufs
NP_001393576.1:p.Val771Leufs
NP_001393577.1:p.Val821Leufs
NP_001393578.1:p.Val771Leufs
NP_001393579.1:p.Val771Leufs
NP_001393580.1:p.Val771Leufs
NP_001393581.1:p.Val771Leufs
NP_001393582.1:p.Val801Leufs
NP_001393583.1:p.Val681Leufs
NP_001393585.1:p.Val522Leufs
NP_001393587.1:p.Val369Leufs
NP_001393588.1:p.Val369Leufs
NP_001393589.1:p.Val369Leufs
NP_001393590.1:p.Val369Leufs
NP_001393591.1:p.Val369Leufs
NP_001393598.1:p.Val369Leufs
NP_001393603.1:p.Val821Leufs
LRG_218t1:c.2460_2462delTGTinsA
LRG_218:g.82574_82576delinsA
LRG_218p1:p.Val821Leufs
NC_000002.11:g.47707836_47707838delinsA
NM_000251.1:c.2460_2462delTGTinsA
NM_000251.2:c.2460_2462delTGTinsA
NR_176230.1:n.2496_2498delTGTinsA
NR_176231.1:n.2464_2466delTGTinsA
NR_176232.1:n.2496_2498delTGTinsA
NR_176233.1:n.2338_2340delTGTinsA
NR_176234.1:n.2496_2498delTGTinsA
NR_176235.1:n.2496_2498delTGTinsA
NR_176236.1:n.2496_2498delTGTinsA
NR_176237.1:n.2496_2498delTGTinsA
NR_176238.1:n.2629_2631delTGTinsA
NR_176239.1:n.2496_2498delTGTinsA
NR_176240.1:n.2291_2293delTGTinsA
NR_176241.1:n.2496_2498delTGTinsA
NR_176242.1:n.2496_2498delTGTinsA
NR_176243.1:n.2346_2348delTGTinsA
NR_176244.1:n.2496_2498delTGTinsA
NR_176245.1:n.2496_2498delTGTinsA
NR_176246.1:n.2496_2498delTGTinsA
NR_176247.1:n.2496_2498delTGTinsA
NR_176248.1:n.2496_2498delTGTinsA
NR_176249.1:n.2726_2728delTGTinsA
NR_176250.1:n.2236_2238delTGTinsA

Protein change:

V755fs

Molecular consequence:

NM_000251.3:c.2460_2462delinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.2262_2264delinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406632.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406633.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406634.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406635.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406636.1:c.2427_2429delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406637.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.2499_2501delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406639.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406640.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406642.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406643.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406644.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406645.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406646.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406647.1:c.2310_2312delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406648.1:c.2460_2462delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.2310_2312delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.2310_2312delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406651.1:c.2310_2312delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406652.1:c.2310_2312delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406653.1:c.2400_2402delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406654.1:c.2040_2042delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406656.1:c.1563_1565delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406658.1:c.1104_1106delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406659.1:c.1104_1106delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406660.1:c.1104_1106delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406661.1:c.1104_1106delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406662.1:c.1104_1106delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406669.1:c.1104_1106delTGTinsA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406674.1:c.2460_2462delTGTinsA - 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

Arabidopsis thaliana Cystatin/monellin superfamily protein (AT3G05685), partial ...
Arabidopsis thaliana Cystatin/monellin superfamily protein (AT3G05685), partial mRNA
gi|1063709664|ref|NM_001337600.1|

Nucleotide
Chain D, CUGBP Elav-like family member 1
Chain D, CUGBP Elav-like family member 1
gi|310689915|pdb|3NNH|D

Protein
Chain C, CUGBP Elav-like family member 1
Chain C, CUGBP Elav-like family member 1
gi|310689912|pdb|3NNH|C

Protein

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
SCV002731641	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 23, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002731641

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 23, 2022)

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, SCV002731641.2

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

Description

The c.2460_2462delTGTinsA pathogenic mutation, located in coding exon 15 of the MSH2 gene, results from the deletion of 3 nucleotides and insertion of one nucleotide causing a translational frameshift with a predicted alternate stop codon (p.V821Lfs*2). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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

ClinVar

Relating variation to medicine