8-114015721-A-G

Position:

• chr8-114015721-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 0.351 in 152,038 control chromosomes in the GnomAD database, including 9,764 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 0.35 (9764 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.06

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.409 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: 0.351 AC: 53344 AN: 151920 Hom.: 9764 Cov.: 33

Gnomad AFR AF: 0.258

Gnomad AMI AF: 0.510

Gnomad AMR AF: 0.379

Gnomad ASJ AF: 0.342

Gnomad EAS AF: 0.169

Gnomad SAS AF: 0.356

Gnomad FIN AF: 0.348

Gnomad MID AF: 0.332

Gnomad NFE AF: 0.413

Gnomad OTH AF: 0.366

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

GnomAD4 genome AF: 0.351 AC: 53352 AN: 152038 Hom.: 9764 Cov.: 33 AF XY: 0.347 AC XY: 25769 AN XY: 74328

Gnomad4 AFR AF: 0.258

Gnomad4 AMR AF: 0.379

Gnomad4 ASJ AF: 0.342

Gnomad4 EAS AF: 0.170

Gnomad4 SAS AF: 0.355

Gnomad4 FIN AF: 0.348

Gnomad4 NFE AF: 0.414

Gnomad4 OTH AF: 0.371

Alfa AF: 0.370 Hom.: 4845

Bravo AF: 0.347

Asia WGS AF: 0.299 AC: 1040 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	6.3
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1397966; hg19: chr8-115027950;