22-23181460-A-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_004327.4(BCR):āc.500A>Cā(p.Gln167Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000311 in 1,607,520 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 ).
Frequency
Consequence
NM_004327.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BCR | NM_004327.4 | c.500A>C | p.Gln167Pro | missense_variant | 1/23 | ENST00000305877.13 | NP_004318.3 | |
BCR | NM_021574.3 | c.500A>C | p.Gln167Pro | missense_variant | 1/22 | NP_067585.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BCR | ENST00000305877.13 | c.500A>C | p.Gln167Pro | missense_variant | 1/23 | 1 | NM_004327.4 | ENSP00000303507.8 | ||
BCR | ENST00000359540.7 | c.500A>C | p.Gln167Pro | missense_variant | 1/22 | 1 | ENSP00000352535.3 | |||
BCR | ENST00000479188.5 | n.129+1628A>C | intron_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.000197 AC: 30AN: 152162Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000165 AC: 4AN: 241738Hom.: 0 AF XY: 0.0000226 AC XY: 3AN XY: 132632
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1455240Hom.: 0 Cov.: 33 AF XY: 0.0000152 AC XY: 11AN XY: 722964
GnomAD4 genome AF: 0.000197 AC: 30AN: 152280Hom.: 0 Cov.: 33 AF XY: 0.000242 AC XY: 18AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 05, 2024 | The c.500A>C (p.Q167P) alteration is located in exon 1 (coding exon 1) of the BCR gene. This alteration results from a A to C substitution at nucleotide position 500, causing the glutamine (Q) at amino acid position 167 to be replaced by a proline (P). 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