9-122910911-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006626.6(ZBTB6):c.1162G>C(p.Asp388His) variant causes a missense change. The variant allele was found at a frequency of 0.0000421 in 1,614,150 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_006626.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000250 AC: 38AN: 152180Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000637 AC: 16AN: 251338Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135846
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461852Hom.: 0 Cov.: 33 AF XY: 0.0000179 AC XY: 13AN XY: 727222
GnomAD4 genome AF: 0.000250 AC: 38AN: 152298Hom.: 0 Cov.: 32 AF XY: 0.000255 AC XY: 19AN XY: 74478
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1162G>C (p.D388H) alteration is located in exon 2 (coding exon 1) of the ZBTB6 gene. This alteration results from a G to C substitution at nucleotide position 1162, causing the aspartic acid (D) at amino acid position 388 to be replaced by a histidine (H). 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