8-91931188-T-C

Variant names:

• chr8-91931188-T-C
• rs10504913

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;