rs1045642
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001348946.2(ABCB1):c.3435T>G(p.Ile1145Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. I1145I) has been classified as Benign.
Frequency
Consequence
NM_001348946.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABCB1 | NM_001348946.2 | c.3435T>G | p.Ile1145Met | missense_variant | 26/28 | ENST00000622132.5 | NP_001335875.1 | |
ABCB1 | NM_001348945.2 | c.3645T>G | p.Ile1215Met | missense_variant | 30/32 | NP_001335874.1 | ||
ABCB1 | NM_000927.5 | c.3435T>G | p.Ile1145Met | missense_variant | 27/29 | NP_000918.2 | ||
ABCB1 | NM_001348944.2 | c.3435T>G | p.Ile1145Met | missense_variant | 28/30 | NP_001335873.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABCB1 | ENST00000622132.5 | c.3435T>G | p.Ile1145Met | missense_variant | 26/28 | 1 | NM_001348946.2 | ENSP00000478255 | P1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 61
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at