22-23181174-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_004327.4(BCR):c.214C>T(p.Arg72Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000435 in 1,379,524 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. R72R) has been classified as Likely benign.
Frequency
Consequence
NM_004327.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BCR | ENST00000305877.13 | c.214C>T | p.Arg72Trp | missense_variant | Exon 1 of 23 | 1 | NM_004327.4 | ENSP00000303507.8 | ||
BCR | ENST00000359540.7 | c.214C>T | p.Arg72Trp | missense_variant | Exon 1 of 22 | 1 | ENSP00000352535.3 | |||
BCR | ENST00000479188.5 | n.129+1342C>T | intron_variant | Intron 1 of 4 | 4 |
Frequencies
GnomAD3 genomes AF: 0.00000669 AC: 1AN: 149386Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000406 AC: 5AN: 1230030Hom.: 0 Cov.: 30 AF XY: 0.00000497 AC XY: 3AN XY: 603258
GnomAD4 genome AF: 0.00000669 AC: 1AN: 149494Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 72946
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.214C>T (p.R72W) 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 214, causing the arginine (R) at amino acid position 72 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