chr8-31467803-A-C

Position:

• chr8-31467803-A-C

Variant summary

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

The variant allele was found at a frequency of 0.721 in 152,056 control chromosomes in the GnomAD database, including 39,690 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 0.72 (39690 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.207

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.762 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

Frequencies

GnomAD3 genomes AF: 0.721 AC: 109526 AN: 151938 Hom.: 39653 Cov.: 32

Gnomad AFR AF: 0.770

Gnomad AMI AF: 0.868

Gnomad AMR AF: 0.701

Gnomad ASJ AF: 0.732

Gnomad EAS AF: 0.606

Gnomad SAS AF: 0.650

Gnomad FIN AF: 0.754

Gnomad MID AF: 0.677

Gnomad NFE AF: 0.703

Gnomad OTH AF: 0.694

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

GnomAD4 genome AF: 0.721 AC: 109622 AN: 152056 Hom.: 39690 Cov.: 32 AF XY: 0.721 AC XY: 53594 AN XY: 74322

Gnomad4 AFR AF: 0.769

Gnomad4 AMR AF: 0.702

Gnomad4 ASJ AF: 0.732

Gnomad4 EAS AF: 0.607

Gnomad4 SAS AF: 0.649

Gnomad4 FIN AF: 0.754

Gnomad4 NFE AF: 0.703

Gnomad4 OTH AF: 0.694

Alfa AF: 0.692 Hom.: 17010

Bravo AF: 0.723

Asia WGS AF: 0.602 AC: 2096 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	6.6
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1369887; hg19: chr8-31325319;