rs140897453
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001123385.2(BCOR):āc.3802A>Gā(p.Arg1268Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000909 in 1,210,548 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 31 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_001123385.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BCOR | NM_001123385.2 | c.3802A>G | p.Arg1268Gly | missense_variant | 8/15 | ENST00000378444.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BCOR | ENST00000378444.9 | c.3802A>G | p.Arg1268Gly | missense_variant | 8/15 | 1 | NM_001123385.2 | P2 |
Frequencies
GnomAD3 genomes AF: 0.000524 AC: 59AN: 112611Hom.: 0 Cov.: 23 AF XY: 0.000518 AC XY: 18AN XY: 34745
GnomAD3 exomes AF: 0.000120 AC: 22AN: 182935Hom.: 0 AF XY: 0.000104 AC XY: 7AN XY: 67381
GnomAD4 exome AF: 0.0000465 AC: 51AN: 1097882Hom.: 0 Cov.: 31 AF XY: 0.0000358 AC XY: 13AN XY: 363236
GnomAD4 genome AF: 0.000524 AC: 59AN: 112666Hom.: 0 Cov.: 23 AF XY: 0.000517 AC XY: 18AN XY: 34810
ClinVar
Submissions by phenotype
BCOR-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Dec 15, 2023 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Oculofaciocardiodental syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 04, 2023 | - - |
not specified Other:1
not provided, no classification provided | reference population | ITMI | Sep 19, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at