chr3-187729156-G-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001706.5(BCL6):āc.1249C>Gā(p.Pro417Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000473 in 1,608,432 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001706.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BCL6 | NM_001706.5 | c.1249C>G | p.Pro417Ala | missense_variant | 5/10 | ENST00000406870.7 | NP_001697.2 | |
LOC100131635 | NR_034062.1 | n.294-3215G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BCL6 | ENST00000406870.7 | c.1249C>G | p.Pro417Ala | missense_variant | 5/10 | 1 | NM_001706.5 | ENSP00000384371 | P1 | |
ENST00000449623.5 | n.347-4368G>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152226Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000162 AC: 4AN: 247616Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133708
GnomAD4 exome AF: 0.0000467 AC: 68AN: 1456206Hom.: 0 Cov.: 30 AF XY: 0.0000456 AC XY: 33AN XY: 723654
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152226Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 16, 2021 | The c.1249C>G (p.P417A) alteration is located in exon 5 (coding exon 3) of the BCL6 gene. This alteration results from a C to G substitution at nucleotide position 1249, causing the proline (P) at amino acid position 417 to be replaced by an alanine (A). 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