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NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Mar 14, 2019)
Last evaluated:
Apr 25, 2018
Accession:
VCV000210522.2
Variation ID:
210522
Description:
single nucleotide variant
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NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=)

Allele ID
209034
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.4
Genomic location
X: 40062247 (GRCh38) GRCh38 UCSC
X: 39921500 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.39921500A>G
NC_000023.11:g.40062247A>G
NM_001123385.2:c.4320T>C MANE Select NP_001116857.1:p.Pro1440= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:40062246:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00026 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00029
The Genome Aggregation Database (gnomAD) 0.00014
1000 Genomes Project 0.00026
Trans-Omics for Precision Medicine (TOPMed) 0.00019
The Genome Aggregation Database (gnomAD), exomes 0.00020
Links
ClinGen: CA207480
dbSNP: rs753786462
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 27, 2014 RCV000193769.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Apr 25, 2018 RCV000726646.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BCOR Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
323 476

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 27, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000246792.1
Submitted: (Sep 15, 2015)
Evidence details
Uncertain significance
(Oct 05, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000701935.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Apr 25, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001006373.1
Submitted: (Mar 14, 2019)
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BCOR - - - -

Text-mined citations for rs753786462...

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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 May 27, 2021