rs8035183

Variant names:

• chr15-70041879-C-T
• rs8035183

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 6 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.269 AC: 11143 AN: 41486

American (AMR) AF: 0.254 AC: 3875 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.328 AC: 1138 AN: 3468

East Asian (EAS) AF: 0.153 AC: 791 AN: 5184

South Asian (SAS) AF: 0.300 AC: 1448 AN: 4820

European-Finnish (FIN) AF: 0.290 AC: 3050 AN: 10524

Middle Eastern (MID) AF: 0.349 AC: 102 AN: 292

European-Non Finnish (NFE) AF: 0.316 AC: 21482 AN: 67962

Other (OTH) AF: 0.292 AC: 616 AN: 2112

Alfa AF: 0.305 Hom.: 23361

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
PhyloP100		-0.53

Splicing

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

Other links and lift over

dbSNP: rs8035183; hg19: chr15-70334218;