8-76383742-A-G

Position:

• chr8-76383742-A-G

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 0.0541 in 152,090 control chromosomes in the GnomAD database, including 315 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 0.054 (315 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.504

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.0858 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: 0.0541 AC: 8227 AN: 151976 Hom.: 315 Cov.: 32

Gnomad AFR AF: 0.0137

Gnomad AMI AF: 0.0581

Gnomad AMR AF: 0.0441

Gnomad ASJ AF: 0.0507

Gnomad EAS AF: 0.000966

Gnomad SAS AF: 0.0935

Gnomad FIN AF: 0.0577

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.0817

Gnomad OTH AF: 0.0542

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

GnomAD4 genome AF: 0.0541 AC: 8222 AN: 152090 Hom.: 315 Cov.: 32 AF XY: 0.0543 AC XY: 4040 AN XY: 74340

Gnomad4 AFR AF: 0.0136

Gnomad4 AMR AF: 0.0440

Gnomad4 ASJ AF: 0.0507

Gnomad4 EAS AF: 0.000969

Gnomad4 SAS AF: 0.0929

Gnomad4 FIN AF: 0.0577

Gnomad4 NFE AF: 0.0817

Gnomad4 OTH AF: 0.0537

Alfa AF: 0.0216 Hom.: 10

Bravo AF: 0.0482

Asia WGS AF: 0.0370 AC: 127 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	2.9
DANN	Benign	0.29

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs75226183; hg19: chr8-77295977;