rs36079334

Variant names:

• chr15-32716207-A-AT
• rs36079334

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.61 (30287 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.161

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.937 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: 0.611 AC: 92594 AN: 151560 Hom.: 30249 Cov.: 0

Gnomad AFR AF: 0.811

Gnomad AMI AF: 0.566

Gnomad AMR AF: 0.576

Gnomad ASJ AF: 0.464

Gnomad EAS AF: 0.960

Gnomad SAS AF: 0.733

Gnomad FIN AF: 0.579

Gnomad MID AF: 0.563

Gnomad NFE AF: 0.477

Gnomad OTH AF: 0.573

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

GnomAD4 genome AF: 0.611 AC: 92690 AN: 151678 Hom.: 30287 Cov.: 0 AF XY: 0.617 AC XY: 45707 AN XY: 74126

Gnomad4 AFR AF: 0.811

Gnomad4 AMR AF: 0.576

Gnomad4 ASJ AF: 0.464

Gnomad4 EAS AF: 0.960

Gnomad4 SAS AF: 0.732

Gnomad4 FIN AF: 0.579

Gnomad4 NFE AF: 0.477

Gnomad4 OTH AF: 0.576

Alfa AF: 0.405 Hom.: 859

Asia WGS AF: 0.836 AC: 2902 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs36079334; hg19: chr15-33008408;