rs2822618
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000463099.1(ABCC13):n.2848-7G>A variant causes a splice region, splice polypyrimidine tract, intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.566 in 152,444 control chromosomes in the GnomAD database, including 24,963 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
ENST00000463099.1 splice_region, splice_polypyrimidine_tract, 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC13 | ENST00000463099.1 | n.2848-7G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.566 AC: 86008AN: 151890Hom.: 24870 Cov.: 32
GnomAD4 exome AF: 0.518 AC: 226AN: 436Hom.: 58 Cov.: 0 AF XY: 0.477 AC XY: 126AN XY: 264
GnomAD4 genome ? AF: 0.566 AC: 86088AN: 152008Hom.: 24905 Cov.: 32 AF XY: 0.563 AC XY: 41795AN XY: 74296
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at