1-61827512-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001350145.3(PATJ):c.1909C>T(p.Arg637Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000818 in 1,613,976 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001350145.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PATJ | NM_001350145.3 | c.1909C>T | p.Arg637Trp | missense_variant | Exon 16 of 44 | ENST00000642238.2 | NP_001337074.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PATJ | ENST00000642238.2 | c.1909C>T | p.Arg637Trp | missense_variant | Exon 16 of 44 | NM_001350145.3 | ENSP00000494277.1 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152008Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000123 AC: 31AN: 251422Hom.: 0 AF XY: 0.000147 AC XY: 20AN XY: 135872
GnomAD4 exome AF: 0.0000821 AC: 120AN: 1461850Hom.: 0 Cov.: 31 AF XY: 0.0000880 AC XY: 64AN XY: 727232
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1909C>T (p.R637W) alteration is located in exon 16 (coding exon 15) of the PATJ gene. This alteration results from a C to T substitution at nucleotide position 1909, causing the arginine (R) at amino acid position 637 to be replaced by a tryptophan (W). 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