NM_000251.3(MSH2):c.942+22_942+29dup AND Lynch syndrome 1

Germline classification:: Benign (1 submission)
Last evaluated:: Feb 27, 2023
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:: RCV000986660.2

Allele description [Variation Report for NM_000251.3(MSH2):c.942+22_942+29dup]

NM_000251.3(MSH2):c.942+22_942+29dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.942+22_942+29dup

HGVS:

NC_000002.12:g.47414440_47414447dup
NG_007110.2:g.16317_16324dup
NM_000251.3:c.942+22_942+29dupMANE SELECT
NM_001258281.1:c.744+22_744+29dup
LRG_218:g.16317_16324dup
NC_000002.11:g.47641559_47641560insAAAAAAAA
NC_000002.11:g.47641579_47641586dup

Links:

dbSNP: rs11309117

NCBI 1000 Genomes Browser:

rs11309117

Molecular consequence:

NM_000251.3:c.942+22_942+29dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001258281.1:c.744+22_744+29dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Lynch syndrome 1
Synonyms:: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001135716	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Benign (Feb 27, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001135716

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Benign
(Feb 27, 2023)

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 Mendelics, SCV001135716.2

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

#	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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