8-114015721-A-G

Variant names:

• chr8-114015721-A-G
• rs1397966

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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;