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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.698 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

Gnomad4 AFR AF: 0.715

Gnomad4 AMR AF: 0.649

Gnomad4 ASJ AF: 0.704

Gnomad4 EAS AF: 0.551

Gnomad4 SAS AF: 0.644

Gnomad4 FIN AF: 0.690

Gnomad4 NFE AF: 0.715

Gnomad4 OTH AF: 0.698

Alfa AF: 0.653 Hom.: 2603

Bravo AF: 0.694

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

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