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NM_000251.3(MSH2):c.942+24_942+29del

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Dec 11, 2020)
Last evaluated:
Aug 21, 2020
Accession:
VCV000695772.6
Variation ID:
695772
Description:
6bp deletion
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NM_000251.3(MSH2):c.942+24_942+29del

Allele ID
685134
Variant type
Deletion
Variant length
6 bp
Cytogenetic location
2p21
Genomic location
2: 47414421-47414426 (GRCh38) GRCh38 UCSC
2: 47641560-47641565 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.47641581_47641586del
NC_000002.12:g.47414442_47414447del
NG_007110.2:g.16319_16324del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:47414420:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
0.21006 (AAAAAAAAAAAAAA)

Allele frequency
-
Links
dbSNP: rs11309117
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter May 22, 2017 RCV000861684.1
Uncertain significance 1 criteria provided, single submitter May 28, 2019 RCV000986662.1
Benign 1 criteria provided, single submitter Aug 21, 2020 RCV001001547.3
Likely benign 1 criteria provided, single submitter Apr 26, 2019 RCV001171072.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MSH2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
4518 4603

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 22, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001002066.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Lynch syndrome I
Allele origin: unknown
Mendelics
Accession: SCV001135719.1
Submitted: (Oct 22, 2019)
Evidence details
Likely benign
(Apr 26, 2019)
criteria provided, single submitter
Method: clinical testing
Breast and/or ovarian cancer
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Accession: SCV001333742.1
Submitted: (Mar 03, 2020)
Evidence details
Benign
(Aug 21, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001158896.2
Submitted: (Dec 11, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs11309117...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 11, 2021