6-41784225-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_013397.6(PRICKLE4):c.227C>T(p.Pro76Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000267 in 1,610,674 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
Genome browser will be placed here
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.227C>T | p.Pro76Leu | missense_variant | Exon 4 of 8 | 5 | NM_013397.6 | ENSP00000404911.1 | ||
ENSG00000124593 | ENST00000335515.10 | n.227C>T | non_coding_transcript_exon_variant | Exon 3 of 9 | 2 | ENSP00000335185.6 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152186Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000362 AC: 9AN: 248646Hom.: 0 AF XY: 0.0000372 AC XY: 5AN XY: 134462
GnomAD4 exome AF: 0.0000281 AC: 41AN: 1458488Hom.: 0 Cov.: 30 AF XY: 0.0000331 AC XY: 24AN XY: 725658
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152186Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.227C>T (p.P76L) alteration is located in exon 4 (coding exon 2) of the PRICKLE4 gene. This alteration results from a C to T substitution at nucleotide position 227, causing the proline (P) at amino acid position 76 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