20-33275851-A-G

Position:

• chr20-33275851-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000423645.5(BPIFB1):​c.-42+2197A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0429 in 152,214 control chromosomes in the GnomAD database, including 160 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.043 (160 hom., cov: 32)
• Consequence: BPIFB1 ENST00000423645.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.262

Genes affected

BPIFB1 (HGNC:16108): (BPI fold containing family B member 1) The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0549 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
BPIFB1	ENST00000423645.5	c.-42+2197A>G		intron_variant		3		ENSP00000390471

Frequencies

GnomAD3 genomes AF: 0.0430 AC: 6533 AN: 152096 Hom.: 160 Cov.: 32

Gnomad AFR AF: 0.0270

Gnomad AMI AF: 0.0538

Gnomad AMR AF: 0.0276

Gnomad ASJ AF: 0.0374

Gnomad EAS AF: 0.0351

Gnomad SAS AF: 0.0336

Gnomad FIN AF: 0.0508

Gnomad MID AF: 0.0411

Gnomad NFE AF: 0.0564

Gnomad OTH AF: 0.0407

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.0429 AC: 6533 AN: 152214 Hom.: 160 Cov.: 32 AF XY: 0.0421 AC XY: 3136 AN XY: 74418

Gnomad4 AFR AF: 0.0269

Gnomad4 AMR AF: 0.0275

Gnomad4 ASJ AF: 0.0374

Gnomad4 EAS AF: 0.0350

Gnomad4 SAS AF: 0.0336

Gnomad4 FIN AF: 0.0508

Gnomad4 NFE AF: 0.0564

Gnomad4 OTH AF: 0.0417

Alfa AF: 0.0447 Hom.: 31

Bravo AF: 0.0400

Asia WGS AF: 0.0400 AC: 138 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.4
DANN	Benign	0.72

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs17307318; hg19: chr20-31863657;