12-133057962-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001289971.2(ZNF84):c.1247C>T(p.Ser416Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,613,642 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_001289971.2 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: 0.0000132 AC: 2AN: 151860Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461782Hom.: 0 Cov.: 36 AF XY: 0.00000413 AC XY: 3AN XY: 727194
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151860Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74140
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1247C>T (p.S416L) alteration is located in exon 5 (coding exon 4) of the ZNF84 gene. This alteration results from a C to T substitution at nucleotide position 1247, causing the serine (S) at amino acid position 416 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