rs6041749
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000801.5(FKBP1A):c.*81A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.431 in 1,548,388 control chromosomes in the GnomAD database, including 148,783 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000801.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FKBP1A | ENST00000400137 | c.*81A>G | 3_prime_UTR_variant | Exon 5 of 5 | 1 | NM_000801.5 | ENSP00000383003.4 | |||
ENSG00000274322 | ENST00000617804.1 | n.204+21575A>G | intron_variant | Intron 3 of 5 | 4 | ENSP00000479180.1 |
Frequencies
GnomAD3 genomes AF: 0.440 AC: 66832AN: 152024Hom.: 15311 Cov.: 33
GnomAD3 exomes AF: 0.386 AC: 56970AN: 147768Hom.: 12055 AF XY: 0.393 AC XY: 31232AN XY: 79512
GnomAD4 exome AF: 0.431 AC: 601241AN: 1396246Hom.: 133476 Cov.: 37 AF XY: 0.431 AC XY: 296836AN XY: 688706
GnomAD4 genome AF: 0.439 AC: 66848AN: 152142Hom.: 15307 Cov.: 33 AF XY: 0.428 AC XY: 31857AN XY: 74352
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is associated with the following publications: (PMID: 30215102) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at