rs1656966
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000596329.3(HRG-AS1):n.515-1643C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.18 in 151,992 control chromosomes in the GnomAD database, including 2,550 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
ENST00000596329.3 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HRG-AS1 | ENST00000596329.3 | n.515-1643C>T | intron_variant, non_coding_transcript_variant | 5 | |||||
HRG-AS1 | ENST00000596632.1 | n.432-3261C>T | intron_variant, non_coding_transcript_variant | 5 | |||||
HRG-AS1 | ENST00000599314.5 | n.61-4622C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.180 AC: 27287AN: 151874Hom.: 2552 Cov.: 31
GnomAD4 genome ? AF: 0.180 AC: 27300AN: 151992Hom.: 2550 Cov.: 31 AF XY: 0.181 AC XY: 13461AN XY: 74298
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at