rs193482
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000501338.5(ENSG00000247121):n.1962+794T>C 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 0.659 in 151,542 control chromosomes in the GnomAD database, including 33,388 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
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 |
---|---|---|---|---|---|---|---|
ERAP1 | XM_011543484.3 | c.-267+794T>C | intron_variant | ||||
ERAP1 | XM_011543485.3 | c.-270-7833T>C | intron_variant | ||||
ERAP1 | XM_011543486.4 | c.-271+794T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000501338.5 | n.1962+794T>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.659 AC: 99788AN: 151424Hom.: 33364 Cov.: 32
GnomAD4 genome ? AF: 0.659 AC: 99872AN: 151542Hom.: 33388 Cov.: 32 AF XY: 0.655 AC XY: 48494AN XY: 74026
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at