rs2214103
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001348946.2(ABCB1):c.117+134G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000357 in 560,966 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001348946.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCB1 | NM_001348946.2 | c.117+134G>T | intron_variant | ENST00000622132.5 | |||
ABCB1 | NM_000927.5 | c.117+134G>T | intron_variant | ||||
ABCB1 | NM_001348944.2 | c.117+134G>T | intron_variant | ||||
ABCB1 | NM_001348945.2 | c.327+134G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCB1 | ENST00000622132.5 | c.117+134G>T | intron_variant | 1 | NM_001348946.2 | P1 | |||
ABCB1 | ENST00000265724.8 | c.117+134G>T | intron_variant | 1 | P1 | ||||
ABCB1 | ENST00000416177.1 | c.117+134G>T | intron_variant | 5 | |||||
ABCB1 | ENST00000543898.5 | c.117+134G>T | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000357 AC: 2AN: 560966Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 298244
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.