NM_000251.3(MSH2):c.1934_1944del (p.Gln645fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 13, 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:: RCV002410960.2

Allele description [Variation Report for NM_000251.3(MSH2):c.1934_1944del (p.Gln645fs)]

NM_000251.3(MSH2):c.1934_1944del (p.Gln645fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.1934_1944del (p.Gln645fs)

HGVS:

NC_000002.12:g.47475199_47475209del
NG_007110.2:g.77076_77086del
NM_000251.3:c.1934_1944delMANE SELECT
NM_001258281.1:c.1736_1746del
NM_001406631.1:c.1934_1944delAAGATGAAATT
NM_001406632.1:c.1934_1944delAAGATGAAATT
NM_001406633.1:c.1934_1944delAAGATGAAATT
NM_001406634.1:c.1934_1944delAAGATGAAATT
NM_001406635.1:c.1934_1944delAAGATGAAATT
NM_001406636.1:c.1901_1911delAAGATGAAATT
NM_001406637.1:c.1934_1944delAAGATGAAATT
NM_001406638.1:c.1973_1983delAAGATGAAATT
NM_001406639.1:c.1934_1944delAAGATGAAATT
NM_001406640.1:c.1934_1944delAAGATGAAATT
NM_001406641.1:c.1934_1944delAAGATGAAATT
NM_001406642.1:c.1934_1944delAAGATGAAATT
NM_001406643.1:c.1934_1944delAAGATGAAATT
NM_001406644.1:c.1934_1944delAAGATGAAATT
NM_001406645.1:c.1934_1944delAAGATGAAATT
NM_001406646.1:c.1934_1944delAAGATGAAATT
NM_001406647.1:c.1784_1794delAAGATGAAATT
NM_001406648.1:c.1934_1944delAAGATGAAATT
NM_001406649.1:c.1784_1794delAAGATGAAATT
NM_001406650.1:c.1784_1794delAAGATGAAATT
NM_001406651.1:c.1784_1794delAAGATGAAATT
NM_001406652.1:c.1784_1794delAAGATGAAATT
NM_001406653.1:c.1874_1884delAAGATGAAATT
NM_001406654.1:c.1514_1524delAAGATGAAATT
NM_001406655.1:c.1934_1944delAAGATGAAATT
NM_001406656.1:c.1037_1047delAAGATGAAATT
NM_001406657.1:c.*144_*154delAAGATGAAATT
NM_001406658.1:c.578_588delAAGATGAAATT
NM_001406659.1:c.578_588delAAGATGAAATT
NM_001406660.1:c.578_588delAAGATGAAATT
NM_001406661.1:c.578_588delAAGATGAAATT
NM_001406662.1:c.578_588delAAGATGAAATT
NM_001406669.1:c.578_588delAAGATGAAATT
NM_001406674.1:c.1934_1944delAAGATGAAATT
NP_000242.1:p.Gln645Argfs
NP_000242.1:p.Gln645fs
NP_001245210.1:p.Gln579fs
NP_001393560.1:p.Gln645Argfs
NP_001393561.1:p.Gln645Argfs
NP_001393562.1:p.Gln645Argfs
NP_001393563.1:p.Gln645Argfs
NP_001393564.1:p.Gln645Argfs
NP_001393565.1:p.Gln634Argfs
NP_001393566.1:p.Gln645Argfs
NP_001393567.1:p.Gln658Argfs
NP_001393568.1:p.Gln645Argfs
NP_001393569.1:p.Gln645Argfs
NP_001393570.1:p.Gln645Argfs
NP_001393571.1:p.Gln645Argfs
NP_001393572.1:p.Gln645Argfs
NP_001393573.1:p.Gln645Argfs
NP_001393574.1:p.Gln645Argfs
NP_001393575.1:p.Gln645Argfs
NP_001393576.1:p.Gln595Argfs
NP_001393577.1:p.Gln645Argfs
NP_001393578.1:p.Gln595Argfs
NP_001393579.1:p.Gln595Argfs
NP_001393580.1:p.Gln595Argfs
NP_001393581.1:p.Gln595Argfs
NP_001393582.1:p.Gln625Argfs
NP_001393583.1:p.Gln505Argfs
NP_001393584.1:p.Gln645Argfs
NP_001393585.1:p.Gln346Argfs
NP_001393587.1:p.Gln193Argfs
NP_001393588.1:p.Gln193Argfs
NP_001393589.1:p.Gln193Argfs
NP_001393590.1:p.Gln193Argfs
NP_001393591.1:p.Gln193Argfs
NP_001393598.1:p.Gln193Argfs
NP_001393603.1:p.Gln645Argfs
LRG_218t1:c.1934_1944del
LRG_218:g.77076_77086del
LRG_218p1:p.Gln645Argfs
NC_000002.11:g.47702338_47702348del
NM_000251.1:c.1934_1944del11
NM_000251.2:c.1934_1944delAAGATGAAATT
NR_176230.1:n.1970_1980delAAGATGAAATT
NR_176231.1:n.1970_1980delAAGATGAAATT
NR_176232.1:n.1970_1980delAAGATGAAATT
NR_176233.1:n.1812_1822delAAGATGAAATT
NR_176234.1:n.1970_1980delAAGATGAAATT
NR_176235.1:n.1970_1980delAAGATGAAATT
NR_176236.1:n.1970_1980delAAGATGAAATT
NR_176237.1:n.1970_1980delAAGATGAAATT
NR_176238.1:n.2103_2113delAAGATGAAATT
NR_176239.1:n.1970_1980delAAGATGAAATT
NR_176240.1:n.1970_1980delAAGATGAAATT
NR_176241.1:n.1970_1980delAAGATGAAATT
NR_176242.1:n.1970_1980delAAGATGAAATT
NR_176243.1:n.1820_1830delAAGATGAAATT
NR_176244.1:n.1970_1980delAAGATGAAATT
NR_176245.1:n.1970_1980delAAGATGAAATT
NR_176246.1:n.1970_1980delAAGATGAAATT
NR_176247.1:n.1970_1980delAAGATGAAATT
NR_176248.1:n.1970_1980delAAGATGAAATT
NR_176249.1:n.2200_2210delAAGATGAAATT
NR_176250.1:n.1710_1720delAAGATGAAATT

Protein change:

Q579fs

Molecular consequence:

NM_000251.3:c.1934_1944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.1736_1746del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406632.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406633.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406634.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406635.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406636.1:c.1901_1911delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406637.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.1973_1983delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406639.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406640.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406642.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406643.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406644.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406645.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406646.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406647.1:c.1784_1794delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406648.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.1784_1794delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.1784_1794delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406651.1:c.1784_1794delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406652.1:c.1784_1794delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406653.1:c.1874_1884delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406654.1:c.1514_1524delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406655.1:c.1934_1944delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406656.1:c.1037_1047delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406658.1:c.578_588delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406659.1:c.578_588delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406660.1:c.578_588delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406661.1:c.578_588delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406662.1:c.578_588delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406669.1:c.578_588delAAGATGAAATT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406674.1:c.1934_1944delAAGATGAAATT - 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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LOC119836601 [Zerene cesonia]
LOC119836601 [Zerene cesonia]
Gene ID:119836601

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002720776	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Aug 13, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002720776

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Aug 13, 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, SCV002720776.2

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

Description

The c.1934_1944del11 pathogenic mutation, located in coding exon 12 of the MSH2 gene, results from a deletion of 11 nucleotides at nucleotide positions 1934 to 1944, causing a translational frameshift with a predicted alternate stop codon (p.Q645Rfs*5). 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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