NM_000251.3(MSH2):c.180_189delinsACCCCC (p.Gln61fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 14, 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:: RCV002407899.2

Allele description [Variation Report for NM_000251.3(MSH2):c.180_189delinsACCCCC (p.Gln61fs)]

NM_000251.3(MSH2):c.180_189delinsACCCCC (p.Gln61fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.180_189delinsACCCCC (p.Gln61fs)

HGVS:

NC_000002.12:g.47403371_47403380delinsACCCCC
NG_007110.2:g.5248_5257delinsACCCCC
NG_095167.1:g.575_584delinsACCCCC
NM_000251.3:c.180_189delinsACCCCCMANE SELECT
NM_001258281.1:c.-19_-10delinsACCCCC
NM_001406631.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406632.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406633.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406634.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406635.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406636.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406637.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406638.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406639.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406640.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406641.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406642.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406643.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406644.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406645.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406646.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406647.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406648.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406649.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406650.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406651.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406652.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406653.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406654.1:c.-161_-152delCCAGGGGGTGinsACCCCC
NM_001406655.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406656.1:c.-816_-807delCCAGGGGGTGinsACCCCC
NM_001406657.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406658.1:c.-1139_-1130delCCAGGGGGTGinsACCCCC
NM_001406659.1:c.-1289_-1280delCCAGGGGGTGinsACCCCC
NM_001406660.1:c.-1486_-1477delCCAGGGGGTGinsACCCCC
NM_001406661.1:c.-1441_-1432delCCAGGGGGTGinsACCCCC
NM_001406662.1:c.-1358_-1349delCCAGGGGGTGinsACCCCC
NM_001406666.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406669.1:c.-1289_-1280delCCAGGGGGTGinsACCCCC
NM_001406672.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_001406674.1:c.180_189delCCAGGGGGTGinsACCCCC
NP_000242.1:p.Gln61Profs
NP_000242.1:p.Gln61fs
NP_001393560.1:p.Gln61Profs
NP_001393561.1:p.Gln61Profs
NP_001393562.1:p.Gln61Profs
NP_001393563.1:p.Gln61Profs
NP_001393564.1:p.Gln61Profs
NP_001393565.1:p.Gln61Profs
NP_001393566.1:p.Gln61Profs
NP_001393567.1:p.Gln61Profs
NP_001393568.1:p.Gln61Profs
NP_001393569.1:p.Gln61Profs
NP_001393570.1:p.Gln61Profs
NP_001393571.1:p.Gln61Profs
NP_001393572.1:p.Gln61Profs
NP_001393573.1:p.Gln61Profs
NP_001393574.1:p.Gln61Profs
NP_001393575.1:p.Gln61Profs
NP_001393576.1:p.Gln61Profs
NP_001393577.1:p.Gln61Profs
NP_001393578.1:p.Gln61Profs
NP_001393579.1:p.Gln61Profs
NP_001393580.1:p.Gln61Profs
NP_001393581.1:p.Gln61Profs
NP_001393582.1:p.Gln61Profs
NP_001393584.1:p.Gln61Profs
NP_001393586.1:p.Gln61Profs
NP_001393595.1:p.Gln61Profs
NP_001393601.1:p.Gln61Profs
NP_001393603.1:p.Gln61Profs
LRG_218t1:c.180_189delCCAGGGGGTGinsACCCCC
LRG_218:g.5248_5257delinsACCCCC
LRG_218p1:p.Gln61Profs
NC_000002.11:g.47630510_47630519delinsACCCCC
NM_000251.1:c.180_189delCCAGGGGGTGinsACCCCC
NM_000251.2:c.180_189delCCAGGGGGTGinsACCCCC
NR_176230.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176231.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176232.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176233.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176234.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176235.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176236.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176237.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176238.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176239.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176240.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176241.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176242.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176243.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176244.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176245.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176246.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176247.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176248.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176249.1:n.216_225delCCAGGGGGTGinsACCCCC
NR_176250.1:n.216_225delCCAGGGGGTGinsACCCCC

Protein change:

Q61fs

Molecular consequence:

NM_001258281.1:c.-19_-10delinsACCCCC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000251.3:c.180_189delinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406632.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406633.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406634.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406635.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406636.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406637.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406639.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406640.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406642.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406643.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406644.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406645.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406646.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406647.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406648.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406651.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406652.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406653.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406655.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406657.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406666.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406672.1:c.180_189delCCAGGGGGTGinsACCCCC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406674.1:c.180_189delCCAGGGGGTGinsACCCCC - 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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Human secretory granule proteoglycan peptide core mRNA, complete cds
Human secretory granule proteoglycan peptide core mRNA, complete cds
gi|190419|gb|J03223.1|HUMPROLEU

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002710757	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Sep 14, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002710757

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Sep 14, 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, SCV002710757.2

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

Description

The c.180_189delCCAGGGGGTGinsACCCCC pathogenic mutation, located in coding exon 1 of the MSH2 gene, results from the deletion of 10 nucleotides and insertion of 6 nucleotides between nucleotide positions 180 and 189 causing a translational frameshift with a predicted alternate stop codon (p.Q61Pfs*22). 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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