1-147619684-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004326.4(BCL9):āc.1529T>Gā(p.Val510Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000752 in 1,461,810 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V510A) has been classified as Uncertain significance.
Frequency
Consequence
NM_004326.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BCL9 | NM_004326.4 | c.1529T>G | p.Val510Gly | missense_variant | 8/10 | ENST00000234739.8 | NP_004317.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BCL9 | ENST00000234739.8 | c.1529T>G | p.Val510Gly | missense_variant | 8/10 | 1 | NM_004326.4 | ENSP00000234739.3 | ||
BCL9 | ENST00000683836.1 | c.1529T>G | p.Val510Gly | missense_variant | 8/10 | ENSP00000506908.1 | ||||
BCL9 | ENST00000684121.1 | c.1307T>G | p.Val436Gly | missense_variant | 6/8 | ENSP00000507238.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000800 AC: 2AN: 249912Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135570
GnomAD4 exome AF: 0.00000752 AC: 11AN: 1461810Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727208
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 27, 2022 | The c.1529T>G (p.V510G) alteration is located in exon 8 (coding exon 5) of the BCL9 gene. This alteration results from a T to G substitution at nucleotide position 1529, causing the valine (V) at amino acid position 510 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at