rs8033124

Variant names:

• chr15-91368244-C-A
• rs8033124

Your query was ambiguous. Multiple possible variants found:

• chr15-91368244-C-A
• chr15-91368244-C-T

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 0.698 in 151,224 control chromosomes in the GnomAD database, including 36,925 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 (36925 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.30
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.709 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.698 AC: 105490 AN: 151106 Hom.: 36904 Cov.: 30

Gnomad AFR AF: 0.715

Gnomad AMI AF: 0.723

Gnomad AMR AF: 0.648

Gnomad ASJ AF: 0.704

Gnomad EAS AF: 0.550

Gnomad SAS AF: 0.643

Gnomad FIN AF: 0.690

Gnomad MID AF: 0.661

Gnomad NFE AF: 0.715

Gnomad OTH AF: 0.701

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

GnomAD4 genome AF: 0.698 AC: 105565 AN: 151224 Hom.: 36925 Cov.: 30 AF XY: 0.693 AC XY: 51158 AN XY: 73796

African (AFR) AF: 0.715 AC: 29518 AN: 41278

American (AMR) AF: 0.649 AC: 9867 AN: 15212

Ashkenazi Jewish (ASJ) AF: 0.704 AC: 2439 AN: 3464

East Asian (EAS) AF: 0.551 AC: 2817 AN: 5116

South Asian (SAS) AF: 0.644 AC: 3070 AN: 4768

European-Finnish (FIN) AF: 0.690 AC: 7154 AN: 10368

Middle Eastern (MID) AF: 0.629 AC: 185 AN: 294

European-Non Finnish (NFE) AF: 0.715 AC: 48394 AN: 67718

Other (OTH) AF: 0.698 AC: 1466 AN: 2100

Alfa AF: 0.653 Hom.: 2603

Bravo AF: 0.694

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.44
DANN	Benign	0.44
PhyloP100		-2.3

Splicing

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

Other links and lift over

dbSNP: rs8033124; hg19: chr15-91911474; COSMIC: COSV70573319;