8-24944767-A-G

Variant names:

• chr8-24944767-A-G
• rs11994014

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 0.699 in 152,094 control chromosomes in the GnomAD database, including 38,738 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 0.70 (38738 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.169

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.79 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: 0.699 AC: 106195 AN: 151976 Hom.: 38713 Cov.: 32

Gnomad AFR AF: 0.485

Gnomad AMI AF: 0.708

Gnomad AMR AF: 0.784

Gnomad ASJ AF: 0.680

Gnomad EAS AF: 0.606

Gnomad SAS AF: 0.764

Gnomad FIN AF: 0.809

Gnomad MID AF: 0.680

Gnomad NFE AF: 0.796

Gnomad OTH AF: 0.691

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

GnomAD4 genome AF: 0.699 AC: 106270 AN: 152094 Hom.: 38738 Cov.: 32 AF XY: 0.702 AC XY: 52185 AN XY: 74348

Gnomad4 AFR AF: 0.485

Gnomad4 AMR AF: 0.784

Gnomad4 ASJ AF: 0.680

Gnomad4 EAS AF: 0.607

Gnomad4 SAS AF: 0.764

Gnomad4 FIN AF: 0.809

Gnomad4 NFE AF: 0.796

Gnomad4 OTH AF: 0.691

Alfa AF: 0.772 Hom.: 20873

Bravo AF: 0.685

Asia WGS AF: 0.721 AC: 2507 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	2.9
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11994014; hg19: chr8-24802280;