rs41494447
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_004996.4(ABCC1):c.218C>T(p.Thr73Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000209 in 1,571,442 control chromosomes in the GnomAD database, including 4 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. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_004996.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCC1 | NM_004996.4 | c.218C>T | p.Thr73Ile | missense_variant | 2/31 | ENST00000399410.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC1 | ENST00000399410.8 | c.218C>T | p.Thr73Ile | missense_variant | 2/31 | 1 | NM_004996.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000318 AC: 47AN: 147966Hom.: 2 Cov.: 30
GnomAD3 exomes AF: 0.000443 AC: 98AN: 221466Hom.: 2 AF XY: 0.000331 AC XY: 40AN XY: 120860
GnomAD4 exome AF: 0.000198 AC: 282AN: 1423362Hom.: 2 Cov.: 35 AF XY: 0.000187 AC XY: 132AN XY: 707482
GnomAD4 genome ? AF: 0.000311 AC: 46AN: 148080Hom.: 2 Cov.: 30 AF XY: 0.000417 AC XY: 30AN XY: 71954
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at