Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_002430.3(MN1):c.785del (p.Gly262fs)

Help
Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jun 4, 2019)
Last evaluated:
May 21, 2019
Accession:
VCV000635174.1
Variation ID:
635174
Description:
1bp deletion
Help

NM_002430.3(MN1):c.785del (p.Gly262fs)

Allele ID
623011
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
22q12.1
Genomic location
22: 27799759 (GRCh38) GRCh38 UCSC
22: 28195747 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.28195749del
NC_000022.11:g.27799761del
NM_002430.3:c.785del MANE Select NP_002421.3:p.Gly262fs frameshift
... more HGVS
Protein change
G262fs
Other names
-
Canonical SPDI
NC_000022.11:27799758:CCC:CC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1568986066
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided May 21, 2019 RCV000786030.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MN1 - - GRCh38
GRCh37
45 71

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 21, 2019)
no assertion criteria provided
Method: research
Chordoma
Allele origin: somatic
Genome Sciences Centre, British Columbia Cancer Agency
Accession: SCV000924571.1
Submitted: (Jun 04, 2019)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
The pivotal role of sampling recurrent tumors in the precision care of patients with tumors of the central nervous system. Wong D Cold Spring Harbor molecular case studies 2019 PMID: 31371350

Text-mined citations for rs1568986066...

Help
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 Jun 14, 2021