rs8033124

chr15-91368244-C-Achr15-91368244-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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;