rs1046248
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001379692.1(BDKRB2):āc.40C>Gā(p.Arg14Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,620 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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. R14H) has been classified as Likely benign.
Frequency
Consequence
NM_001379692.1 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 |
---|---|---|---|---|---|---|---|
BDKRB2 | NM_001379692.1 | c.40C>G | p.Arg14Gly | missense_variant | 2/3 | ENST00000554311.2 | |
BDKRB2 | NM_000623.4 | c.40C>G | p.Arg14Gly | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BDKRB2 | ENST00000554311.2 | c.40C>G | p.Arg14Gly | missense_variant | 2/3 | 1 | NM_001379692.1 | P1 | |
BDKRB2 | ENST00000542454.2 | c.-2729C>G | 5_prime_UTR_variant | 2/3 | 1 | ||||
BDKRB2 | ENST00000539359.1 | c.-208C>G | 5_prime_UTR_variant | 2/4 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461620Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727154
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at