chr11-771390-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_182612.4(GATD1):c.487G>T(p.Ala163Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000465 in 1,569,824 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A163T) has been classified as Uncertain significance.
Frequency
Consequence
NM_182612.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152130Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000301 AC: 6AN: 199384Hom.: 0 AF XY: 0.00000921 AC XY: 1AN XY: 108554
GnomAD4 exome AF: 0.0000254 AC: 36AN: 1417578Hom.: 0 Cov.: 33 AF XY: 0.0000214 AC XY: 15AN XY: 701438
GnomAD4 genome AF: 0.000243 AC: 37AN: 152246Hom.: 0 Cov.: 33 AF XY: 0.000242 AC XY: 18AN XY: 74434
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.487G>T (p.A163S) alteration is located in exon 6 (coding exon 6) of the PDDC1 gene. This alteration results from a G to T substitution at nucleotide position 487, causing the alanine (A) at amino acid position 163 to be replaced by a serine (S). 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