22-23290381-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_004327.4(BCR):c.2750T>C(p.Val917Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,854 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V917D) has been classified as Uncertain significance.
Frequency
Consequence
NM_004327.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BCR | NM_004327.4 | c.2750T>C | p.Val917Ala | missense_variant | 14/23 | ENST00000305877.13 | |
LOC107985554 | XR_001755448.2 | n.148A>G | non_coding_transcript_exon_variant | 1/3 | |||
BCR | NM_021574.3 | c.2750T>C | p.Val917Ala | missense_variant | 14/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BCR | ENST00000305877.13 | c.2750T>C | p.Val917Ala | missense_variant | 14/23 | 1 | NM_004327.4 | P1 | |
BCR | ENST00000359540.7 | c.2750T>C | p.Val917Ala | missense_variant | 14/22 | 1 | |||
BCR | ENST00000487968.5 | n.2120T>C | non_coding_transcript_exon_variant | 5/5 | 2 | ||||
BCR | ENST00000419722.6 | n.7+760T>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251492Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135920
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461854Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727234
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at