rs1056932
Variant summary
Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_001706.5(BCL6):c.1161C>T(p.Asn387Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.641 in 1,613,920 control chromosomes in the GnomAD database, including 341,613 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001706.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Benign. The variant received -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.539 AC: 81937AN: 151936Hom.: 25893 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.658 AC: 165326AN: 251440 AF XY: 0.661 show subpopulations
GnomAD4 exome AF: 0.651 AC: 951884AN: 1461866Hom.: 315708 Cov.: 88 AF XY: 0.652 AC XY: 474009AN XY: 727232 show subpopulations
GnomAD4 genome AF: 0.539 AC: 81972AN: 152054Hom.: 25905 Cov.: 31 AF XY: 0.549 AC XY: 40771AN XY: 74304 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at