chr14-96263710-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_000710.4(BDKRB1):c.28C>T(p.Leu10Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000133 in 1,613,826 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. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_000710.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BDKRB1 | NM_000710.4 | c.28C>T | p.Leu10Phe | missense_variant | 3/3 | ENST00000216629.11 | |
LOC124903375 | XR_007064322.1 | n.213-3818G>A | intron_variant, non_coding_transcript_variant | ||||
BDKRB1 | NM_001386007.1 | c.28C>T | p.Leu10Phe | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BDKRB1 | ENST00000216629.11 | c.28C>T | p.Leu10Phe | missense_variant | 3/3 | 1 | NM_000710.4 | P1 | |
BDKRB1 | ENST00000553356.1 | c.28C>T | p.Leu10Phe | missense_variant | 3/5 | 1 | |||
ENST00000553638.1 | n.257-3818G>A | intron_variant, non_coding_transcript_variant | 2 | ||||||
BDKRB1 | ENST00000611804.1 | c.28C>T | p.Leu10Phe | missense_variant | 1/1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000985 AC: 15AN: 152214Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000876 AC: 22AN: 251018Hom.: 0 AF XY: 0.0000884 AC XY: 12AN XY: 135700
GnomAD4 exome AF: 0.000136 AC: 199AN: 1461612Hom.: 0 Cov.: 30 AF XY: 0.000142 AC XY: 103AN XY: 727090
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at