6-41784215-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_013397.6(PRICKLE4):c.217C>A(p.Gln73Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000428 in 1,612,966 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013397.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PRICKLE4 | ENST00000458694.6 | c.217C>A | p.Gln73Lys | missense_variant | Exon 4 of 8 | 5 | NM_013397.6 | ENSP00000404911.1 | ||
ENSG00000124593 | ENST00000335515.10 | n.217C>A | non_coding_transcript_exon_variant | Exon 3 of 9 | 2 | ENSP00000335185.6 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152228Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000320 AC: 8AN: 250116Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135236
GnomAD4 exome AF: 0.0000466 AC: 68AN: 1460738Hom.: 0 Cov.: 31 AF XY: 0.0000482 AC XY: 35AN XY: 726762
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152228Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.217C>A (p.Q73K) alteration is located in exon 4 (coding exon 2) of the PRICKLE4 gene. This alteration results from a C to A substitution at nucleotide position 217, causing the glutamine (Q) at amino acid position 73 to be replaced by a lysine (K). 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