chr20-420896-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_031229.4(RBCK1):c.782A>T(p.Asn261Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000672 in 148,820 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. N261S) has been classified as Likely benign.
Frequency
Consequence
NM_031229.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBCK1 | NM_031229.4 | c.782A>T | p.Asn261Ile | missense_variant | 7/12 | ENST00000356286.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBCK1 | ENST00000356286.10 | c.782A>T | p.Asn261Ile | missense_variant | 7/12 | 1 | NM_031229.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000672 AC: 1AN: 148704Hom.: 0 Cov.: 26
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1405874Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 694356
GnomAD4 genome ? AF: 0.00000672 AC: 1AN: 148820Hom.: 0 Cov.: 26 AF XY: 0.0000138 AC XY: 1AN XY: 72630
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.