8-24944767-A-G

Variant names:

• chr8-24944767-A-G
• rs11994014

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 12 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.485 AC: 20105 AN: 41442

American (AMR) AF: 0.784 AC: 12001 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.680 AC: 2361 AN: 3470

East Asian (EAS) AF: 0.607 AC: 3128 AN: 5154

South Asian (SAS) AF: 0.764 AC: 3683 AN: 4822

European-Finnish (FIN) AF: 0.809 AC: 8563 AN: 10588

Middle Eastern (MID) AF: 0.690 AC: 203 AN: 294

European-Non Finnish (NFE) AF: 0.796 AC: 54126 AN: 68006

Other (OTH) AF: 0.691 AC: 1457 AN: 2110

Alfa AF: 0.771 Hom.: 23360

Bravo AF: 0.685

Asia WGS AF: 0.721 AC: 2507 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	2.9
DANN	Benign	0.48
PhyloP100		-0.17

Splicing

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

Other links and lift over

dbSNP: rs11994014; hg19: chr8-24802280;