22-23181165-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004327.4(BCR):āc.205A>Gā(p.Ser69Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000282 in 1,416,368 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_004327.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BCR | ENST00000305877.13 | c.205A>G | p.Ser69Gly | missense_variant | 1/23 | 1 | NM_004327.4 | ENSP00000303507.8 | ||
BCR | ENST00000359540.7 | c.205A>G | p.Ser69Gly | missense_variant | 1/22 | 1 | ENSP00000352535.3 | |||
BCR | ENST00000479188.5 | n.129+1333A>G | intron_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.00000670 AC: 1AN: 149268Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000833 AC: 1AN: 120086Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 65240
GnomAD4 exome AF: 0.00000237 AC: 3AN: 1267100Hom.: 0 Cov.: 30 AF XY: 0.00000481 AC XY: 3AN XY: 623612
GnomAD4 genome AF: 0.00000670 AC: 1AN: 149268Hom.: 0 Cov.: 32 AF XY: 0.0000137 AC XY: 1AN XY: 72766
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 21, 2024 | The c.205A>G (p.S69G) alteration is located in exon 1 (coding exon 1) of the BCR gene. This alteration results from a A to G substitution at nucleotide position 205, causing the serine (S) at amino acid position 69 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