rs438259
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000645747.1(HULC):n.508-16317G>A 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 0.274 in 152,040 control chromosomes in the GnomAD database, including 5,820 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
ENST00000645747.1 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 |
---|---|---|---|---|---|---|---|
LOC105374914 | XR_001743953.1 | n.279-16317G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105374914 | XR_001743951.1 | n.585-16317G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105374914 | XR_001743952.1 | n.279-16317G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105374914 | XR_926450.3 | n.401-16317G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HULC | ENST00000645747.1 | n.508-16317G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.274 AC: 41663AN: 151922Hom.: 5812 Cov.: 32
GnomAD4 genome ? AF: 0.274 AC: 41696AN: 152040Hom.: 5820 Cov.: 32 AF XY: 0.273 AC XY: 20282AN XY: 74286
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at