10-75262703-C-T
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000734866.1(ZNF503-AS1):n.17C>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.082 in 122,022 control chromosomes in the GnomAD database, including 459 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000734866.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF503-AS1 | ENST00000734866.1 | n.17C>T | non_coding_transcript_exon_variant | Exon 1 of 3 | ||||||
ZNF503-AS1 | ENST00000666247.1 | n.291+17267C>T | intron_variant | Intron 2 of 3 | ||||||
ZNF503-AS1 | ENST00000734865.1 | n.311+17267C>T | intron_variant | Intron 2 of 3 |
Frequencies
GnomAD3 genomes AF: 0.0820 AC: 10005AN: 121998Hom.: 457 Cov.: 28 show subpopulations
GnomAD4 genome AF: 0.0820 AC: 10005AN: 122022Hom.: 459 Cov.: 28 AF XY: 0.0868 AC XY: 4896AN XY: 56378 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at