NM_000251.3(MSH2):c.212-2dup AND Hereditary nonpolyposis colorectal neoplasms

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 13, 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:: RCV002691060.3

Allele description [Variation Report for NM_000251.3(MSH2):c.212-2dup]

NM_000251.3(MSH2):c.212-2dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.212-2dup

HGVS:

NC_000002.12:g.47408399dup
NG_007110.2:g.10276dup
NM_000251.3:c.212-2dupMANE SELECT
NM_001258281.1:c.14-2dup
NM_001406631.1:c.212-2dup
NM_001406632.1:c.212-2dup
NM_001406633.1:c.212-2dup
NM_001406634.1:c.212-2dup
NM_001406635.1:c.212-2dup
NM_001406636.1:c.212-2dup
NM_001406637.1:c.212-2dup
NM_001406638.1:c.212-2dup
NM_001406639.1:c.212-2dup
NM_001406640.1:c.212-2dup
NM_001406641.1:c.212-2dup
NM_001406642.1:c.212-2dup
NM_001406643.1:c.212-2dup
NM_001406644.1:c.212-2dup
NM_001406645.1:c.212-2dup
NM_001406646.1:c.212-2dup
NM_001406647.1:c.212-2dup
NM_001406648.1:c.212-2dup
NM_001406649.1:c.212-2dup
NM_001406650.1:c.212-2dup
NM_001406651.1:c.212-2dup
NM_001406652.1:c.212-2dup
NM_001406653.1:c.212-62dup
NM_001406654.1:c.-129-82dup
NM_001406655.1:c.212-2dup
NM_001406656.1:c.-784-2dup
NM_001406657.1:c.212-2dup
NM_001406658.1:c.-1107-2dup
NM_001406659.1:c.-1257-2dup
NM_001406660.1:c.-1454-2dup
NM_001406661.1:c.-1409-2dup
NM_001406662.1:c.-1326-2dup
NM_001406666.1:c.212-2dup
NM_001406669.1:c.-1257-2dup
NM_001406672.1:c.212-2dup
NM_001406674.1:c.212-2dup
LRG_218:g.10276dup
NC_000002.11:g.47635536_47635537insA
NC_000002.11:g.47635538dup

Molecular consequence:

NM_001406653.1:c.212-62dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406654.1:c.-129-82dup - intron variant - [Sequence Ontology: SO:0001627]
NM_000251.3:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001258281.1:c.14-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406631.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406632.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406633.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406634.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406635.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406636.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406637.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406638.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406639.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406640.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406641.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406642.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406643.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406644.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406645.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406646.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406647.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406648.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406649.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406650.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406651.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406652.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406655.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406656.1:c.-784-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406657.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406658.1:c.-1107-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406659.1:c.-1257-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406660.1:c.-1454-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406661.1:c.-1409-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406662.1:c.-1326-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406666.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406669.1:c.-1257-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406672.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406674.1:c.212-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Hereditary nonpolyposis colorectal neoplasms
Identifiers:: MeSH: D003123; MedGen: C0009405

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002995825	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 13, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002995825

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 13, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002995825.2

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals affected with MSH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 1 of the MSH2 gene. It does not directly change the encoded amino acid sequence of the MSH2 protein.

#	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: Sep 29, 2024

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