rs60689358

chr3-32776393-T-TAAACchr3-32776393-T-TAAACAAAGATTATTTTTCTCTAAGTCTGTGACTTAAAC

Variant summary

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

The variant allele was found at a frequency of 0.814 in 151,700 control chromosomes in the GnomAD database, including 50,608 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.81 (50608 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.286

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.837 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: 0.814 AC: 123460 AN: 151582 Hom.: 50578 Cov.: 0

Gnomad AFR AF: 0.726

Gnomad AMI AF: 0.867

Gnomad AMR AF: 0.837

Gnomad ASJ AF: 0.837

Gnomad EAS AF: 0.812

Gnomad SAS AF: 0.809

Gnomad FIN AF: 0.933

Gnomad MID AF: 0.807

Gnomad NFE AF: 0.843

Gnomad OTH AF: 0.832

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

GnomAD4 genome AF: 0.814 AC: 123539 AN: 151700 Hom.: 50608 Cov.: 0 AF XY: 0.816 AC XY: 60547 AN XY: 74162

Gnomad4 AFR AF: 0.725

Gnomad4 AMR AF: 0.838

Gnomad4 ASJ AF: 0.837

Gnomad4 EAS AF: 0.812

Gnomad4 SAS AF: 0.809

Gnomad4 FIN AF: 0.933

Gnomad4 NFE AF: 0.843

Gnomad4 OTH AF: 0.834

Alfa AF: 0.822 Hom.: 5528

Bravo AF: 0.803

Asia WGS AF: 0.831 AC: 2890 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: rs60689358; hg19: chr3-32817885;