rs751264766
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_182519.3(BPIFB4):c.203T>C(p.Val68Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,613,216 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/22 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
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BPIFB4 | ENST00000375483.4 | c.203T>C | p.Val68Ala | missense_variant | Exon 5 of 18 | 5 | NM_182519.3 | ENSP00000364632.3 | ||
BPIFB4 | ENST00000674031.1 | c.569T>C | p.Val190Ala | missense_variant | Exon 2 of 15 | ENSP00000501266.1 | ||||
BPIFB4 | ENST00000445356.1 | n.106+1768T>C | intron_variant | Intron 3 of 6 | 2 | ENSP00000388423.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151692Hom.: 0 Cov.: 29 show subpopulations
GnomAD2 exomes AF: 0.0000119 AC: 3AN: 251262 AF XY: 0.0000147 show subpopulations
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461524Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 727090 show subpopulations
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151692Hom.: 0 Cov.: 29 AF XY: 0.0000135 AC XY: 1AN XY: 74072 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.203T>C (p.V68A) alteration is located in exon 3 (coding exon 3) of the BPIFB4 gene. This alteration results from a T to C substitution at nucleotide position 203, causing the valine (V) at amino acid position 68 to be replaced by an alanine (A). 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