rs35694136

chr15-74747271-AT-A

Variant summary

Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP6 BA1

The variant allele was found at a frequency of 0.233 in 151,514 control chromosomes in the GnomAD database, including 6,676 homozygotes. Variant has been reported in Lovd as Benign (no stars).

• Frequency: Genomes: 𝑓 0.23 (6676 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00

ACMG classification

Verdict is Benign. Variant got -9 ACMG points.

• BP6: Variant 15-74747271-AT-A is Benign according to our data. Variant chr15-74747271-AT-A is described in Lovd as [Benign].
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.48 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: 0.233 AC: 35207 AN: 151398 Hom.: 6644 Cov.: 27

Gnomad AFR AF: 0.456

Gnomad AMI AF: 0.194

Gnomad AMR AF: 0.350

Gnomad ASJ AF: 0.137

Gnomad EAS AF: 0.496

Gnomad SAS AF: 0.373

Gnomad FIN AF: 0.128

Gnomad MID AF: 0.142

Gnomad NFE AF: 0.0641

Gnomad OTH AF: 0.212

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

GnomAD4 genome AF: 0.233 AC: 35309 AN: 151514 Hom.: 6676 Cov.: 27 AF XY: 0.242 AC XY: 17922 AN XY: 74042

Gnomad4 AFR AF: 0.456

Gnomad4 AMR AF: 0.351

Gnomad4 ASJ AF: 0.137

Gnomad4 EAS AF: 0.496

Gnomad4 SAS AF: 0.375

Gnomad4 FIN AF: 0.128

Gnomad4 NFE AF: 0.0640

Gnomad4 OTH AF: 0.218

Alfa AF: 0.0349 Hom.: 37

Bravo AF: 0.258

Asia WGS AF: 0.500 AC: 1734 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: rs35694136; hg19: chr15-75039612;