rs1011526
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001367233.3(HEPH):c.1501+1016G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.39 in 110,338 control chromosomes in the GnomAD database, including 9,518 homozygotes. There are 12,116 hemizygotes in GnomAD. 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
NM_001367233.3 intron
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 |
---|---|---|---|---|---|---|---|
HEPH | NM_001367233.3 | c.1501+1016G>A | intron_variant | ENST00000343002.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HEPH | ENST00000343002.7 | c.1501+1016G>A | intron_variant | 1 | NM_001367233.3 | P5 |
Frequencies
GnomAD3 genomes ? AF: 0.390 AC: 42967AN: 110286Hom.: 9508 Cov.: 22 AF XY: 0.371 AC XY: 12063AN XY: 32540
GnomAD4 genome ? AF: 0.390 AC: 43032AN: 110338Hom.: 9518 Cov.: 22 AF XY: 0.372 AC XY: 12116AN XY: 32602
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at