rs374644579
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_013374.6(PDCD6IP):c.193C>A(p.Leu65Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000144 in 1,387,272 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 (★).
Frequency
Consequence
NM_013374.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000144 AC: 2AN: 1387272Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 681982
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.193C>A (p.L65I) alteration is located in exon 1 (coding exon 1) of the PDCD6IP gene. This alteration results from a C to A substitution at nucleotide position 193, causing the leucine (L) at amino acid position 65 to be replaced by an isoleucine (I). 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