14-96263753-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000710.4(BDKRB1):c.71C>T(p.Thr24Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000434 in 1,614,090 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000710.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BDKRB1 | NM_000710.4 | c.71C>T | p.Thr24Met | missense_variant | Exon 3 of 3 | ENST00000216629.11 | NP_000701.2 | |
BDKRB1 | NM_001386007.1 | c.71C>T | p.Thr24Met | missense_variant | Exon 2 of 2 | NP_001372936.1 | ||
LOC124903375 | XR_007064322.1 | n.213-3861G>A | intron_variant | Intron 1 of 1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000994 AC: 25AN: 251396Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135888
GnomAD4 exome AF: 0.0000424 AC: 62AN: 1461874Hom.: 0 Cov.: 30 AF XY: 0.0000523 AC XY: 38AN XY: 727242
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.71C>T (p.T24M) alteration is located in exon 3 (coding exon 1) of the BDKRB1 gene. This alteration results from a C to T substitution at nucleotide position 71, causing the threonine (T) at amino acid position 24 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at