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NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

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

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 16, 2020
Accession:
VCV000210518.5
Variation ID:
210518
Description:
single nucleotide variant
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NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)

Allele ID
209037
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.4
Genomic location
X: 40073311 (GRCh38) GRCh38 UCSC
X: 39932564 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.39932564C>T
NC_000023.11:g.40073311C>T
NG_008880.1:g.109019G>A
... more HGVS
Protein change
V679I
Other names
-
Canonical SPDI
NC_000023.11:40073310:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00026 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00057
1000 Genomes Project 0.00026
Exome Aggregation Consortium (ExAC) 0.00064
The Genome Aggregation Database (gnomAD) 0.00041
Trans-Omics for Precision Medicine (TOPMed) 0.00062
The Genome Aggregation Database (gnomAD), exomes 0.00067
Links
ClinGen: CA207143
dbSNP: rs144722432
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Dec 3, 2017 RCV000625946.2
Benign 1 criteria provided, single submitter Nov 16, 2020 RCV000640962.4
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 18, 2015 RCV000193574.2
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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
(Aug 08, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000246786.1
Submitted: (Sep 15, 2015)
Evidence details
Likely benign
(Nov 18, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000336859.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Dec 03, 2017)
criteria provided, single submitter
Method: clinical testing
Lenz microphthalmia syndrome
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000746538.1
Submitted: (Dec 03, 2017)
Evidence details
Benign
(Nov 16, 2020)
criteria provided, single submitter
Method: clinical testing
Oculofaciocardiodental syndrome
Allele origin: germline
Invitae
Accession: SCV000762567.4
Submitted: (Jan 07, 2021)
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 rs144722432...

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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 Sep 07, 2021