rs754981516
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000326195.13(ABCF1):c.2275C>G(p.Arg759Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. R759W) has been classified as Likely benign.
Frequency
Consequence
ENST00000326195.13 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABCF1 | NM_001025091.2 | c.2275C>G | p.Arg759Gly | missense_variant | 23/25 | ENST00000326195.13 | NP_001020262.1 | |
ABCF1 | NM_001090.3 | c.2161C>G | p.Arg721Gly | missense_variant | 22/24 | NP_001081.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABCF1 | ENST00000326195.13 | c.2275C>G | p.Arg759Gly | missense_variant | 23/25 | 1 | NM_001025091.2 | ENSP00000313603 | A1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at