rs563112904
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_178034.4(PLA2G4D):c.387+14T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_178034.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 21101AN: 56670Hom.: 0 Cov.: 0 FAILED QC
GnomAD3 exomes AF: 0.471 AC: 27614AN: 58584Hom.: 552 AF XY: 0.475 AC XY: 15374AN XY: 32392
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.424 AC: 69095AN: 162910Hom.: 2127 Cov.: 0 AF XY: 0.431 AC XY: 38297AN XY: 88826
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR;InbreedingCoeff AF: 0.372 AC: 21104AN: 56690Hom.: 0 Cov.: 0 AF XY: 0.351 AC XY: 9251AN XY: 26354
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at