16-16009825-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_004996.4(ABCC1):c.275C>T(p.Ser92Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000231 in 1,611,656 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts 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: 0.00120 AC: 183AN: 152050Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.000308 AC: 76AN: 246626Hom.: 0 AF XY: 0.000269 AC XY: 36AN XY: 133854
GnomAD4 exome AF: 0.000129 AC: 189AN: 1459488Hom.: 1 Cov.: 32 AF XY: 0.000116 AC XY: 84AN XY: 726008
GnomAD4 genome AF: 0.00120 AC: 183AN: 152168Hom.: 1 Cov.: 31 AF XY: 0.00112 AC XY: 83AN XY: 74386
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