16-16007952-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_004996.4(ABCC1):c.185G>A(p.Arg62Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000251 in 1,568,030 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_004996.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00145 AC: 214AN: 148094Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.000299 AC: 73AN: 244136Hom.: 0 AF XY: 0.000211 AC XY: 28AN XY: 132488
GnomAD4 exome AF: 0.000126 AC: 179AN: 1419818Hom.: 1 Cov.: 32 AF XY: 0.0000921 AC XY: 65AN XY: 705926
GnomAD4 genome AF: 0.00145 AC: 215AN: 148212Hom.: 0 Cov.: 30 AF XY: 0.00147 AC XY: 106AN XY: 72162
ClinVar
Submissions by phenotype
ABCC1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at