rs8035183

chr15-70041879-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 0.288 in 152,036 control chromosomes in the GnomAD database, including 6,475 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 0.29 (6475 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.534

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.313 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: 0.288 AC: 43817 AN: 151920 Hom.: 6474 Cov.: 32

Gnomad AFR AF: 0.269

Gnomad AMI AF: 0.198

Gnomad AMR AF: 0.254

Gnomad ASJ AF: 0.328

Gnomad EAS AF: 0.153

Gnomad SAS AF: 0.302

Gnomad FIN AF: 0.290

Gnomad MID AF: 0.335

Gnomad NFE AF: 0.316

Gnomad OTH AF: 0.291

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

GnomAD4 genome AF: 0.288 AC: 43826 AN: 152036 Hom.: 6475 Cov.: 32 AF XY: 0.287 AC XY: 21315 AN XY: 74314

Gnomad4 AFR AF: 0.269

Gnomad4 AMR AF: 0.254

Gnomad4 ASJ AF: 0.328

Gnomad4 EAS AF: 0.153

Gnomad4 SAS AF: 0.300

Gnomad4 FIN AF: 0.290

Gnomad4 NFE AF: 0.316

Gnomad4 OTH AF: 0.292

Alfa AF: 0.310 Hom.: 14862

Bravo AF: 0.283

Asia WGS AF: 0.212 AC: 735 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
Cadd	Benign	1.3
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: rs8035183; hg19: chr15-70334218;