20-33081569-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_182519.3(BPIFB4):c.43G>C(p.Val15Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000567 in 1,551,596 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182519.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BPIFB4 | ENST00000375483.4 | c.43G>C | p.Val15Leu | missense_variant | Exon 3 of 18 | 5 | NM_182519.3 | ENSP00000364632.3 | ||
BPIFB4 | ENST00000674031.1 | c.43G>C | p.Val15Leu | missense_variant | Exon 1 of 15 | ENSP00000501266.1 | ||||
BPIFB4 | ENST00000445356.1 | n.43G>C | non_coding_transcript_exon_variant | Exon 3 of 7 | 2 | ENSP00000388423.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152266Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000321 AC: 5AN: 155658Hom.: 0 AF XY: 0.0000606 AC XY: 5AN XY: 82536
GnomAD4 exome AF: 0.0000600 AC: 84AN: 1399330Hom.: 0 Cov.: 30 AF XY: 0.0000681 AC XY: 47AN XY: 690170
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152266Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74390
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.43G>C (p.V15L) alteration is located in exon 1 (coding exon 1) of the BPIFB4 gene. This alteration results from a G to C substitution at nucleotide position 43, causing the valine (V) at amino acid position 15 to be replaced by a leucine (L). 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