16-16009796-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PP3_ModerateBS2
The NM_004996.4(ABCC1):c.246G>T(p.Trp82Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000479 in 1,607,336 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004996.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152008Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000829 AC: 2AN: 241218Hom.: 0 AF XY: 0.0000152 AC XY: 2AN XY: 131150
GnomAD4 exome AF: 0.0000447 AC: 65AN: 1455328Hom.: 0 Cov.: 32 AF XY: 0.0000428 AC XY: 31AN XY: 723912
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152008Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74236
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.246G>T (p.W82C) alteration is located in exon 3 (coding exon 3) of the ABCC1 gene. This alteration results from a G to T substitution at nucleotide position 246, causing the tryptophan (W) at amino acid position 82 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at