rs1800508
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000542454.2(BDKRB2):c.-2985C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000106 in 302,996 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000542454.2 5_prime_UTR
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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BDKRB2 | ENST00000542454.2 | c.-2985C>T | 5_prime_UTR_variant | 1/3 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000985 AC: 15AN: 152222Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000512 AC: 2AN: 39064Hom.: 0 AF XY: 0.0000479 AC XY: 1AN XY: 20872
GnomAD4 exome AF: 0.000113 AC: 17AN: 150656Hom.: 1 Cov.: 0 AF XY: 0.000127 AC XY: 11AN XY: 86512
GnomAD4 genome ? AF: 0.0000985 AC: 15AN: 152340Hom.: 0 Cov.: 33 AF XY: 0.000107 AC XY: 8AN XY: 74496
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at