16-16046021-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_004996.4(ABCC1):c.1218+8A>G variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.316 in 1,612,758 control chromosomes in the GnomAD database, including 85,821 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_004996.4 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.397 AC: 60316AN: 151862Hom.: 13533 Cov.: 32
GnomAD3 exomes AF: 0.328 AC: 81188AN: 247250Hom.: 14536 AF XY: 0.316 AC XY: 42339AN XY: 134136
GnomAD4 exome AF: 0.307 AC: 448891AN: 1460780Hom.: 72260 Cov.: 37 AF XY: 0.303 AC XY: 220171AN XY: 726608
GnomAD4 genome AF: 0.397 AC: 60395AN: 151978Hom.: 13561 Cov.: 32 AF XY: 0.396 AC XY: 29433AN XY: 74270
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at