rs9282564
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001348946.2(ABCB1):c.61A>T(p.Asn21Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N21D) has been classified as Likely benign.
Frequency
Consequence
NM_001348946.2 missense
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.61A>T | p.Asn21Tyr | missense_variant | 2/28 | ENST00000622132.5 | |
ABCB1 | NM_001348945.2 | c.271A>T | p.Asn91Tyr | missense_variant | 6/32 | ||
ABCB1 | NM_000927.5 | c.61A>T | p.Asn21Tyr | missense_variant | 3/29 | ||
ABCB1 | NM_001348944.2 | c.61A>T | p.Asn21Tyr | missense_variant | 4/30 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCB1 | ENST00000622132.5 | c.61A>T | p.Asn21Tyr | missense_variant | 2/28 | 1 | NM_001348946.2 | P1 | |
ABCB1 | ENST00000265724.8 | c.61A>T | p.Asn21Tyr | missense_variant | 3/29 | 1 | P1 | ||
ABCB1 | ENST00000543898.5 | c.61A>T | p.Asn21Tyr | missense_variant | 3/28 | 5 | |||
ABCB1 | ENST00000416177.1 | c.61A>T | p.Asn21Tyr | missense_variant | 4/6 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 152180Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1460988Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726770
GnomAD4 genome ? Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 152180Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at