NM_001025091.2:c.62C>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001025091.2(ABCF1):āc.62C>Gā(p.Thr21Arg) 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 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. T21M) has been classified as Uncertain significance.
Frequency
Consequence
NM_001025091.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABCF1 | ENST00000326195.13 | c.62C>G | p.Thr21Arg | missense_variant | Exon 1 of 25 | 1 | NM_001025091.2 | ENSP00000313603.8 | ||
ABCF1 | ENST00000376545.7 | c.62C>G | p.Thr21Arg | missense_variant | Exon 1 of 24 | 1 | ENSP00000365728.3 | |||
ABCF1 | ENST00000441867.6 | c.62C>G | p.Thr21Arg | missense_variant | Exon 1 of 25 | 5 | ENSP00000405512.2 | |||
ABCF1 | ENST00000468958.1 | c.-183C>G | 5_prime_UTR_variant | Exon 1 of 7 | 3 | ENSP00000440893.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000419 AC: 1AN: 238914Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131024
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.86e-7 AC: 1AN: 1457846Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 725024
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at