NM_000251.3(MSH2):c.122_140dup (p.Glu48fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 2021
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:: RCV002354002.2

Allele description [Variation Report for NM_000251.3(MSH2):c.122_140dup (p.Glu48fs)]

NM_000251.3(MSH2):c.122_140dup (p.Glu48fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.122_140dup (p.Glu48fs)

HGVS:

NC_000002.12:g.47403313_47403331dup
NG_007110.2:g.5190_5208dup
NG_095167.1:g.517_535dup
NM_000251.3:c.122_140dupMANE SELECT
NM_001258281.1:c.-30-47_-30-29dup
NM_001406631.1:c.122_140dup
NM_001406632.1:c.122_140dup
NM_001406633.1:c.122_140dup
NM_001406634.1:c.122_140dup
NM_001406635.1:c.122_140dup
NM_001406636.1:c.122_140dup
NM_001406637.1:c.122_140dup
NM_001406638.1:c.122_140dup
NM_001406639.1:c.122_140dup
NM_001406640.1:c.122_140dup
NM_001406641.1:c.122_140dup
NM_001406642.1:c.122_140dup
NM_001406643.1:c.122_140dup
NM_001406644.1:c.122_140dup
NM_001406645.1:c.122_140dup
NM_001406646.1:c.122_140dup
NM_001406647.1:c.122_140dup
NM_001406648.1:c.122_140dup
NM_001406649.1:c.122_140dup
NM_001406650.1:c.122_140dup
NM_001406651.1:c.122_140dup
NM_001406652.1:c.122_140dup
NM_001406653.1:c.122_140dup
NM_001406654.1:c.-219_-201dup
NM_001406655.1:c.122_140dup
NM_001406656.1:c.-874_-856dup
NM_001406657.1:c.122_140dup
NM_001406658.1:c.-1197_-1179dup
NM_001406659.1:c.-1347_-1329dup
NM_001406660.1:c.-1544_-1526dup
NM_001406661.1:c.-1499_-1481dup
NM_001406662.1:c.-1416_-1398dup
NM_001406666.1:c.122_140dup
NM_001406669.1:c.-1347_-1329dup
NM_001406672.1:c.122_140dup
NM_001406674.1:c.122_140dup
NP_000242.1:p.Glu48Leufs
NP_000242.1:p.Glu48fs
NP_001393560.1:p.Glu48Leufs
NP_001393561.1:p.Glu48Leufs
NP_001393562.1:p.Glu48Leufs
NP_001393563.1:p.Glu48Leufs
NP_001393564.1:p.Glu48Leufs
NP_001393565.1:p.Glu48Leufs
NP_001393566.1:p.Glu48Leufs
NP_001393567.1:p.Glu48Leufs
NP_001393568.1:p.Glu48Leufs
NP_001393569.1:p.Glu48Leufs
NP_001393570.1:p.Glu48Leufs
NP_001393571.1:p.Glu48Leufs
NP_001393572.1:p.Glu48Leufs
NP_001393573.1:p.Glu48Leufs
NP_001393574.1:p.Glu48Leufs
NP_001393575.1:p.Glu48Leufs
NP_001393576.1:p.Glu48Leufs
NP_001393577.1:p.Glu48Leufs
NP_001393578.1:p.Glu48Leufs
NP_001393579.1:p.Glu48Leufs
NP_001393580.1:p.Glu48Leufs
NP_001393581.1:p.Glu48Leufs
NP_001393582.1:p.Glu48Leufs
NP_001393584.1:p.Glu48Leufs
NP_001393586.1:p.Glu48Leufs
NP_001393595.1:p.Glu48Leufs
NP_001393601.1:p.Glu48Leufs
NP_001393603.1:p.Glu48Leufs
LRG_218t1:c.122_140dup
LRG_218:g.5190_5208dup
LRG_218p1:p.Glu48Leufs
NC_000002.11:g.47630452_47630470dup
NM_000251.1:c.122_140dupACTTCTATACGGCGCACGG
NM_000251.2:c.122_140dup
NR_176230.1:n.158_176dup
NR_176231.1:n.158_176dup
NR_176232.1:n.158_176dup
NR_176233.1:n.158_176dup
NR_176234.1:n.158_176dup
NR_176235.1:n.158_176dup
NR_176236.1:n.158_176dup
NR_176237.1:n.158_176dup
NR_176238.1:n.158_176dup
NR_176239.1:n.158_176dup
NR_176240.1:n.158_176dup
NR_176241.1:n.158_176dup
NR_176242.1:n.158_176dup
NR_176243.1:n.158_176dup
NR_176244.1:n.158_176dup
NR_176245.1:n.158_176dup
NR_176246.1:n.158_176dup
NR_176247.1:n.158_176dup
NR_176248.1:n.158_176dup
NR_176249.1:n.158_176dup
NR_176250.1:n.158_176dup

Protein change:

E48fs

Molecular consequence:

NM_000251.3:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406632.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406633.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406634.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406635.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406636.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406637.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406639.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406640.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406642.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406643.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406644.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406645.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406646.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406647.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406648.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406651.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406652.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406653.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406655.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406657.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406666.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406672.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406674.1:c.122_140dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.-30-47_-30-29dup - intron variant - [Sequence Ontology: SO:0001627]

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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conserved oligomeric Golgi complex subunit 5 [Leguminivora glycinivorella]
conserved oligomeric Golgi complex subunit 5 [Leguminivora glycinivorella]
gi|2237288970|ref|XP_047995982.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002654654	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 4, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002654654

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 4, 2021)

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, SCV002654654.2

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

Description

The c.122_140dup19 variant, located in coding exon 1 of the MSH2 gene, results from a duplication of ACTTCTATACGGCGCACGG at nucleotide position 122, causing a translational frameshift with a predicted alternate stop codon (p.E48Lfs*40). 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

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