chr22-23181192-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_004327.4(BCR):c.232C>T(p.Arg78Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000716 in 1,173,180 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004327.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BCR | ENST00000305877.13 | c.232C>T | p.Arg78Trp | missense_variant | Exon 1 of 23 | 1 | NM_004327.4 | ENSP00000303507.8 | ||
BCR | ENST00000359540.7 | c.232C>T | p.Arg78Trp | missense_variant | Exon 1 of 22 | 1 | ENSP00000352535.3 | |||
BCR | ENST00000479188.5 | n.129+1360C>T | intron_variant | Intron 1 of 4 | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.0000716 AC: 84AN: 1173180Hom.: 0 Cov.: 30 AF XY: 0.0000788 AC XY: 45AN XY: 570792
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.232C>T (p.R78W) alteration is located in exon 1 (coding exon 1) of the BCR gene. This alteration results from a C to T substitution at nucleotide position 232, causing the arginine (R) at amino acid position 78 to be replaced by a tryptophan (W). 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