17-44398626-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001002909.4(GPATCH8):c.3451C>T(p.Leu1151Phe) variant causes a missense change. The variant allele was found at a frequency of 0.0000414 in 1,545,454 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001002909.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152154Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000515 AC: 1AN: 194102Hom.: 0 AF XY: 0.00000975 AC XY: 1AN XY: 102520
GnomAD4 exome AF: 0.0000423 AC: 59AN: 1393300Hom.: 1 Cov.: 34 AF XY: 0.0000423 AC XY: 29AN XY: 686186
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152154Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3451C>T (p.L1151F) alteration is located in exon 8 (coding exon 8) of the GPATCH8 gene. This alteration results from a C to T substitution at nucleotide position 3451, causing the leucine (L) at amino acid position 1151 to be replaced by a phenylalanine (F). 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