chr16-572565-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_004204.5(PIGQ):c.-9-1501A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.474 in 455,356 control chromosomes in the GnomAD database, including 53,024 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_004204.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.457 AC: 69171AN: 151308Hom.: 16155 Cov.: 33
GnomAD3 exomes AF: 0.495 AC: 63591AN: 128376Hom.: 16495 AF XY: 0.500 AC XY: 35130AN XY: 70298
GnomAD4 exome AF: 0.482 AC: 146510AN: 303930Hom.: 36837 Cov.: 0 AF XY: 0.493 AC XY: 85379AN XY: 173046
GnomAD4 genome AF: 0.457 AC: 69255AN: 151426Hom.: 16187 Cov.: 33 AF XY: 0.466 AC XY: 34492AN XY: 73998
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 71% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 66. Only high quality variants are reported. -
not provided Benign:1
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Developmental and epileptic encephalopathy, 77 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at