14-67302089-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP3BP6_Moderate
The NM_022474.4(PALS1):c.772C>T(p.Arg258Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000263 in 1,605,780 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_022474.4 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: 0.000105 AC: 16AN: 152044Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000102 AC: 25AN: 244266Hom.: 0 AF XY: 0.0000680 AC XY: 9AN XY: 132448
GnomAD4 exome AF: 0.000279 AC: 406AN: 1453736Hom.: 0 Cov.: 30 AF XY: 0.000260 AC XY: 188AN XY: 723314
GnomAD4 genome AF: 0.000105 AC: 16AN: 152044Hom.: 0 Cov.: 32 AF XY: 0.0000943 AC XY: 7AN XY: 74258
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at