3-107716668-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001142568.3(BBX):c.224C>T(p.Ser75Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000124 in 1,613,678 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001142568.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000299 AC: 75AN: 251100Hom.: 0 AF XY: 0.000265 AC XY: 36AN XY: 135700
GnomAD4 exome AF: 0.000120 AC: 176AN: 1461556Hom.: 0 Cov.: 30 AF XY: 0.000100 AC XY: 73AN XY: 727084
GnomAD4 genome AF: 0.000158 AC: 24AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.224C>T (p.S75L) alteration is located in exon 5 (coding exon 2) of the BBX gene. This alteration results from a C to T substitution at nucleotide position 224, causing the serine (S) at amino acid position 75 to be replaced by a leucine (L). 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