8-31587891-T-C

Position:

• chr8-31587891-T-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 0.51 in 151,932 control chromosomes in the GnomAD database, including 20,080 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 0.51 (20080 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.94

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.07).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.787 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: 0.510 AC: 77396 AN: 151812 Hom.: 20062 Cov.: 31

Gnomad AFR AF: 0.481

Gnomad AMI AF: 0.381

Gnomad AMR AF: 0.453

Gnomad ASJ AF: 0.614

Gnomad EAS AF: 0.807

Gnomad SAS AF: 0.578

Gnomad FIN AF: 0.472

Gnomad MID AF: 0.633

Gnomad NFE AF: 0.514

Gnomad OTH AF: 0.531

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

GnomAD4 genome AF: 0.510 AC: 77463 AN: 151932 Hom.: 20080 Cov.: 31 AF XY: 0.508 AC XY: 37693 AN XY: 74232

Gnomad4 AFR AF: 0.481

Gnomad4 AMR AF: 0.453

Gnomad4 ASJ AF: 0.614

Gnomad4 EAS AF: 0.808

Gnomad4 SAS AF: 0.581

Gnomad4 FIN AF: 0.472

Gnomad4 NFE AF: 0.514

Gnomad4 OTH AF: 0.533

Alfa AF: 0.516 Hom.: 9623

Bravo AF: 0.506

Asia WGS AF: 0.672 AC: 2337 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.18
DANN	Benign	0.28

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs763552; hg19: chr8-31445407;