NM_000251.3(MSH2):c.212-2A>G AND Lynch syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 21, 2019
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000076395.3

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

NM_000251.3(MSH2):c.212-2A>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.212-2A>G

HGVS:

NC_000002.12:g.47408399A>G
NG_007110.2:g.10276A>G
NM_000251.3:c.212-2A>GMANE SELECT
NM_001258281.1:c.14-2A>G
NM_001406631.1:c.212-2A>G
NM_001406632.1:c.212-2A>G
NM_001406633.1:c.212-2A>G
NM_001406634.1:c.212-2A>G
NM_001406635.1:c.212-2A>G
NM_001406636.1:c.212-2A>G
NM_001406637.1:c.212-2A>G
NM_001406638.1:c.212-2A>G
NM_001406639.1:c.212-2A>G
NM_001406640.1:c.212-2A>G
NM_001406641.1:c.212-2A>G
NM_001406642.1:c.212-2A>G
NM_001406643.1:c.212-2A>G
NM_001406644.1:c.212-2A>G
NM_001406645.1:c.212-2A>G
NM_001406646.1:c.212-2A>G
NM_001406647.1:c.212-2A>G
NM_001406648.1:c.212-2A>G
NM_001406649.1:c.212-2A>G
NM_001406650.1:c.212-2A>G
NM_001406651.1:c.212-2A>G
NM_001406652.1:c.212-2A>G
NM_001406653.1:c.212-62A>G
NM_001406654.1:c.-129-82A>G
NM_001406655.1:c.212-2A>G
NM_001406656.1:c.-784-2A>G
NM_001406657.1:c.212-2A>G
NM_001406658.1:c.-1107-2A>G
NM_001406659.1:c.-1257-2A>G
NM_001406660.1:c.-1454-2A>G
NM_001406661.1:c.-1409-2A>G
NM_001406662.1:c.-1326-2A>G
NM_001406666.1:c.212-2A>G
NM_001406669.1:c.-1257-2A>G
NM_001406672.1:c.212-2A>G
NM_001406674.1:c.212-2A>G
LRG_218t1:c.212-2A>G
LRG_218:g.10276A>G
NC_000002.11:g.47635538A>G
NM_000251.1:c.212-2A>G
NM_000251.2:c.212-2A>G

Links:

dbSNP: rs267607917

NCBI 1000 Genomes Browser:

rs267607917

Molecular consequence:

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

Condition(s)

Name:: Lynch syndrome
Identifiers:: MONDO: MONDO:0005835; MedGen: C4552100

Recent activity

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nsv600289 (0)
GEO Profiles
MAG TPA_asm: uncultured Streptococcus sp. isolate ERR2764930_bin.5_metaWRAP_v1.1...
MAG TPA_asm: uncultured Streptococcus sp. isolate ERR2764930_bin.5_metaWRAP_v1.1_MAG, whole genome shotgun sequencing project
gi|2098984716|tpe|CAJZJI000000000.1 JI010000000

Nucleotide
MAG TPA_asm: uncultured Candidatus Saccharibacteria bacterium isolate ERR2765092...
MAG TPA_asm: uncultured Candidatus Saccharibacteria bacterium isolate ERR2765092_bin.1_metaWRAP_v1.1_MAG, whole genome shotgun sequencing project
gi|2098954935|tpe|CAJZGG000000000.1 GG010000000

Nucleotide
MAG TPA_asm: Prevotella pallens isolate ERR2764840_bin.6_metaWRAP_v1.1_MAG, whol...
MAG TPA_asm: Prevotella pallens isolate ERR2764840_bin.6_metaWRAP_v1.1_MAG, whole genome shotgun sequencing project
gi|2098956997|tpe|CAJZGP000000000.1 GP010000000

Nucleotide
MAG TPA_asm: Haemophilus parainfluenzae isolate ERR2764926_bin.4_metaWRAP_v1.1_M...
MAG TPA_asm: Haemophilus parainfluenzae isolate ERR2764926_bin.4_metaWRAP_v1.1_MAG, whole genome shotgun sequencing project
gi|2099008414|tpe|CAJZKF000000000.1 KF010000000

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000107431	International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	reviewed by expert panel (Guidelines v2.4)	Likely pathogenic (Jun 21, 2019)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000107431

International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

reviewed by expert panel

(Guidelines v2.4)

Likely pathogenic
(Jun 21, 2019)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000107431.3

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

Description

Interrupts canonical donor splice site

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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