15-44667151-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001387263.1(PATL2):c.1418C>T(p.Ser473Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000116 in 1,551,498 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001387263.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PATL2 | NM_001387263.1 | c.1418C>T | p.Ser473Leu | missense_variant | Exon 16 of 18 | ENST00000682850.1 | NP_001374192.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152136Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000130 AC: 2AN: 154050Hom.: 0 AF XY: 0.0000245 AC XY: 2AN XY: 81738
GnomAD4 exome AF: 0.0000107 AC: 15AN: 1399362Hom.: 0 Cov.: 30 AF XY: 0.0000116 AC XY: 8AN XY: 690190
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152136Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74314
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1418C>T (p.S473L) alteration is located in exon 14 (coding exon 13) of the PATL2 gene. This alteration results from a C to T substitution at nucleotide position 1418, causing the serine (S) at amino acid position 473 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