14-96264610-G-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_000710.4(BDKRB1):āc.928G>Cā(p.Val310Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000195 in 1,614,186 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_000710.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BDKRB1 | NM_000710.4 | c.928G>C | p.Val310Leu | missense_variant | 3/3 | ENST00000216629.11 | |
LOC124903375 | XR_007064322.1 | n.212+3759C>G | intron_variant, non_coding_transcript_variant | ||||
BDKRB1 | NM_001386007.1 | c.928G>C | p.Val310Leu | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BDKRB1 | ENST00000216629.11 | c.928G>C | p.Val310Leu | missense_variant | 3/3 | 1 | NM_000710.4 | P1 | |
BDKRB1 | ENST00000553356.1 | c.730G>C | p.Val244Leu | missense_variant | 4/5 | 1 | |||
ENST00000553638.1 | n.256+3759C>G | intron_variant, non_coding_transcript_variant | 2 | ||||||
BDKRB1 | ENST00000611804.1 | c.928G>C | p.Val310Leu | missense_variant | 1/1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152180Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000445 AC: 112AN: 251486Hom.: 0 AF XY: 0.000544 AC XY: 74AN XY: 135920
GnomAD4 exome AF: 0.000196 AC: 286AN: 1461888Hom.: 6 Cov.: 33 AF XY: 0.000285 AC XY: 207AN XY: 727246
GnomAD4 genome AF: 0.000184 AC: 28AN: 152298Hom.: 0 Cov.: 33 AF XY: 0.000255 AC XY: 19AN XY: 74464
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jun 28, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at