NM_000251.3(MSH2):c.770_786del (p.Val257fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 23, 2019
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:: RCV002400596.2

Allele description [Variation Report for NM_000251.3(MSH2):c.770_786del (p.Val257fs)]

NM_000251.3(MSH2):c.770_786del (p.Val257fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.770_786del (p.Val257fs)

HGVS:

NC_000002.12:g.47412538_47412554del
NG_007110.2:g.14415_14431del
NM_000251.3:c.770_786delMANE SELECT
NM_001258281.1:c.572_588del
NM_001406631.1:c.770_786del17
NM_001406632.1:c.770_786del17
NM_001406633.1:c.770_786del17
NM_001406634.1:c.770_786del17
NM_001406635.1:c.770_786del17
NM_001406636.1:c.770_786del17
NM_001406637.1:c.770_786del17
NM_001406638.1:c.770_786del17
NM_001406639.1:c.770_786del17
NM_001406640.1:c.770_786del17
NM_001406641.1:c.770_786del17
NM_001406642.1:c.770_786del17
NM_001406643.1:c.770_786del17
NM_001406644.1:c.770_786del17
NM_001406645.1:c.770_786del17
NM_001406646.1:c.770_786del17
NM_001406647.1:c.770_786del17
NM_001406648.1:c.770_786del17
NM_001406649.1:c.770_786del17
NM_001406650.1:c.770_786del17
NM_001406651.1:c.770_786del17
NM_001406652.1:c.770_786del17
NM_001406653.1:c.710_726del17
NM_001406654.1:c.350_366del17
NM_001406655.1:c.770_786del17
NM_001406656.1:c.-226_-210del17
NM_001406657.1:c.770_786del17
NM_001406658.1:c.-549_-533del17
NM_001406659.1:c.-699_-683del17
NM_001406660.1:c.-896_-880del17
NM_001406661.1:c.-851_-835del17
NM_001406662.1:c.-768_-752del17
NM_001406666.1:c.770_786del17
NM_001406669.1:c.-699_-683del17
NM_001406672.1:c.770_786del17
NM_001406674.1:c.770_786del17
NP_000242.1:p.Val257Glufs
NP_000242.1:p.Val257fs
NP_001245210.1:p.Val191fs
NP_001393560.1:p.Val257Glufs
NP_001393561.1:p.Val257Glufs
NP_001393562.1:p.Val257Glufs
NP_001393563.1:p.Val257Glufs
NP_001393564.1:p.Val257Glufs
NP_001393565.1:p.Val257Glufs
NP_001393566.1:p.Val257Glufs
NP_001393567.1:p.Val257Glufs
NP_001393568.1:p.Val257Glufs
NP_001393569.1:p.Val257Glufs
NP_001393570.1:p.Val257Glufs
NP_001393571.1:p.Val257Glufs
NP_001393572.1:p.Val257Glufs
NP_001393573.1:p.Val257Glufs
NP_001393574.1:p.Val257Glufs
NP_001393575.1:p.Val257Glufs
NP_001393576.1:p.Val257Glufs
NP_001393577.1:p.Val257Glufs
NP_001393578.1:p.Val257Glufs
NP_001393579.1:p.Val257Glufs
NP_001393580.1:p.Val257Glufs
NP_001393581.1:p.Val257Glufs
NP_001393582.1:p.Val237Glufs
NP_001393583.1:p.Val117Glufs
NP_001393584.1:p.Val257Glufs
NP_001393586.1:p.Val257Glufs
NP_001393595.1:p.Val257Glufs
NP_001393601.1:p.Val257Glufs
NP_001393603.1:p.Val257Glufs
LRG_218t1:c.770_786del17
LRG_218:g.14415_14431del
LRG_218p1:p.Val257Glufs
NC_000002.11:g.47639677_47639693del
NM_000251.1:c.770_786del17
NM_000251.2:c.770_786del17
NR_176230.1:n.806_822del17
NR_176231.1:n.806_822del17
NR_176232.1:n.806_822del17
NR_176233.1:n.798_814del17
NR_176234.1:n.806_822del17
NR_176235.1:n.806_822del17
NR_176236.1:n.806_822del17
NR_176237.1:n.806_822del17
NR_176238.1:n.806_822del17
NR_176239.1:n.806_822del17
NR_176240.1:n.806_822del17
NR_176241.1:n.806_822del17
NR_176242.1:n.806_822del17
NR_176243.1:n.806_822del17
NR_176244.1:n.806_822del17
NR_176245.1:n.806_822del17
NR_176246.1:n.806_822del17
NR_176247.1:n.806_822del17
NR_176248.1:n.806_822del17
NR_176249.1:n.806_822del17
NR_176250.1:n.806_822del17

Protein change:

V191fs

Molecular consequence:

NM_000251.3:c.770_786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.572_588del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406632.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406633.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406634.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406635.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406636.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406637.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406639.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406640.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406642.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406643.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406644.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406645.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406646.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406647.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406648.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406651.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406652.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406653.1:c.710_726del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406654.1:c.350_366del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406655.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406657.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406666.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406672.1:c.770_786del17 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406674.1:c.770_786del17 - 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
SCV002673221	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Aug 23, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002673221

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Aug 23, 2019)

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, SCV002673221.2

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

Description

The c.770_786del17 pathogenic mutation, located in coding exon 4 of the MSH2 gene, results from a deletion of 17 nucleotides at nucleotide positions 770 to 786, causing a translational frameshift with a predicted alternate stop codon (p.V257Efs*21). 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

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