6-136154165-A-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_018945.4(PDE7B):c.569A>C(p.Lys190Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000226 in 1,458,864 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_018945.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 250412Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135350
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1458864Hom.: 0 Cov.: 29 AF XY: 0.0000193 AC XY: 14AN XY: 725926
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.569A>C (p.K190T) alteration is located in exon 7 (coding exon 7) of the PDE7B gene. This alteration results from a A to C substitution at nucleotide position 569, causing the lysine (K) at amino acid position 190 to be replaced by a threonine (T). 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