8-91931188-T-C

Position:

• chr8-91931188-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 0.583 in 151,948 control chromosomes in the GnomAD database, including 26,655 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 0.58 (26655 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.62

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.837 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.582 AC: 88441 AN: 151832 Hom.: 26625 Cov.: 32

Gnomad AFR AF: 0.666

Gnomad AMI AF: 0.499

Gnomad AMR AF: 0.672

Gnomad ASJ AF: 0.640

Gnomad EAS AF: 0.859

Gnomad SAS AF: 0.790

Gnomad FIN AF: 0.472

Gnomad MID AF: 0.644

Gnomad NFE AF: 0.490

Gnomad OTH AF: 0.603

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

GnomAD4 genome AF: 0.583 AC: 88526 AN: 151948 Hom.: 26655 Cov.: 32 AF XY: 0.591 AC XY: 43894 AN XY: 74292

Gnomad4 AFR AF: 0.666

Gnomad4 AMR AF: 0.672

Gnomad4 ASJ AF: 0.640

Gnomad4 EAS AF: 0.858

Gnomad4 SAS AF: 0.789

Gnomad4 FIN AF: 0.472

Gnomad4 NFE AF: 0.490

Gnomad4 OTH AF: 0.609

Alfa AF: 0.370 Hom.: 911

Bravo AF: 0.597

Asia WGS AF: 0.813 AC: 2771 AN: 3414

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	8.4
DANN	Benign	0.81

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10504913; hg19: chr8-92943416;