rs782067841
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021939.4(FKBP10):c.77C>A(p.Ala26Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,459,042 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 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. A26V) has been classified as Uncertain significance.
Frequency
Consequence
NM_021939.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FKBP10 | NM_021939.4 | c.77C>A | p.Ala26Asp | missense_variant | 1/10 | ENST00000321562.9 | |
FKBP10 | XM_011525099.4 | c.77C>A | p.Ala26Asp | missense_variant | 1/11 | ||
FKBP10 | XM_011525100.3 | c.-51C>A | 5_prime_UTR_variant | 1/10 | |||
FKBP10 | XM_047436515.1 | c.-51C>A | 5_prime_UTR_variant | 1/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FKBP10 | ENST00000321562.9 | c.77C>A | p.Ala26Asp | missense_variant | 1/10 | 1 | NM_021939.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000414 AC: 1AN: 241602Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132734
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1459042Hom.: 0 Cov.: 31 AF XY: 0.00000276 AC XY: 2AN XY: 725770
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at