chr20-33304875-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033197.3(BPIFB1):c.1238G>A(p.Gly413Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000157 in 1,461,874 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 Uncertain significance (★).
Frequency
Consequence
NM_033197.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BPIFB1 | NM_033197.3 | c.1238G>A | p.Gly413Glu | missense_variant | 13/16 | ENST00000253354.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BPIFB1 | ENST00000253354.2 | c.1238G>A | p.Gly413Glu | missense_variant | 13/16 | 1 | NM_033197.3 | P1 | |
BPIFB1 | ENST00000464032.1 | n.1000G>A | non_coding_transcript_exon_variant | 9/13 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461874Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 727238
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 27, 2022 | The c.1238G>A (p.G413E) alteration is located in exon 13 (coding exon 12) of the BPIFB1 gene. This alteration results from a G to A substitution at nucleotide position 1238, causing the glycine (G) at amino acid position 413 to be replaced by a glutamic acid (E). 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