rs36079334

Positions:

• chr15-32716207-A-AT

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/exons	MANE	UniProt

Ensembl

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