12-132490664-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001367871.1(FBRSL1):āc.94C>Gā(p.Pro32Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000401 in 996,522 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 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. P32S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001367871.1 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBRSL1 | NM_001367871.1 | c.94C>G | p.Pro32Ala | missense_variant | Exon 1 of 19 | ENST00000680143.1 | NP_001354800.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBRSL1 | ENST00000680143.1 | c.94C>G | p.Pro32Ala | missense_variant | Exon 1 of 19 | NM_001367871.1 | ENSP00000505341.1 | |||
FBRSL1 | ENST00000434748.2 | c.94C>G | p.Pro32Ala | missense_variant | Exon 1 of 17 | 1 | ENSP00000396160.2 | |||
FBRSL1 | ENST00000650108.1 | c.94C>G | p.Pro32Ala | missense_variant | Exon 1 of 20 | ENSP00000496901.1 |
Frequencies
GnomAD3 genomes AF: 0.0000137 AC: 2AN: 145876Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000235 AC: 2AN: 850646Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 395084
GnomAD4 genome AF: 0.0000137 AC: 2AN: 145876Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 70976
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at