rs8029351

Variant names:

• chr15-74884896-A-C
• rs8029351

Your query was ambiguous. Multiple possible variants found:

• chr15-74884896-A-C
• chr15-74884896-A-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 0.22 in 152,154 control chromosomes in the GnomAD database, including 4,550 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 0.22 (4550 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.44

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.631 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: 0.220 AC: 33424 AN: 152036 Hom.: 4555 Cov.: 32

Gnomad AFR AF: 0.259

Gnomad AMI AF: 0.327

Gnomad AMR AF: 0.203

Gnomad ASJ AF: 0.181

Gnomad EAS AF: 0.649

Gnomad SAS AF: 0.460

Gnomad FIN AF: 0.213

Gnomad MID AF: 0.301

Gnomad NFE AF: 0.151

Gnomad OTH AF: 0.231

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

GnomAD4 genome AF: 0.220 AC: 33433 AN: 152154 Hom.: 4550 Cov.: 32 AF XY: 0.228 AC XY: 16955 AN XY: 74368

Gnomad4 AFR AF: 0.258

Gnomad4 AMR AF: 0.203

Gnomad4 ASJ AF: 0.181

Gnomad4 EAS AF: 0.649

Gnomad4 SAS AF: 0.458

Gnomad4 FIN AF: 0.213

Gnomad4 NFE AF: 0.151

Gnomad4 OTH AF: 0.231

Alfa AF: 0.182 Hom.: 457

Bravo AF: 0.219

Asia WGS AF: 0.567 AC: 1969 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.17
DANN	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8029351; hg19: chr15-75177237;