rs8015351

Variant names:

• chr14-49421667-A-G
• rs8015351

Your query was ambiguous. Multiple possible variants found:

• chr14-49421667-A-G
• chr14-49421667-A-T

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 0.409 in 152,106 control chromosomes in the GnomAD database, including 16,327 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 0.41 (16327 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0780
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.74 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: 0.409 AC: 62145 AN: 151988 Hom.: 16283 Cov.: 32

Gnomad AFR AF: 0.746

Gnomad AMI AF: 0.115

Gnomad AMR AF: 0.412

Gnomad ASJ AF: 0.250

Gnomad EAS AF: 0.477

Gnomad SAS AF: 0.269

Gnomad FIN AF: 0.229

Gnomad MID AF: 0.373

Gnomad NFE AF: 0.249

Gnomad OTH AF: 0.389

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

GnomAD4 genome AF: 0.409 AC: 62255 AN: 152106 Hom.: 16327 Cov.: 32 AF XY: 0.406 AC XY: 30226 AN XY: 74362

African (AFR) AF: 0.747 AC: 30978 AN: 41480

American (AMR) AF: 0.411 AC: 6284 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.250 AC: 867 AN: 3468

East Asian (EAS) AF: 0.477 AC: 2463 AN: 5164

South Asian (SAS) AF: 0.270 AC: 1299 AN: 4820

European-Finnish (FIN) AF: 0.229 AC: 2422 AN: 10588

Middle Eastern (MID) AF: 0.378 AC: 111 AN: 294

European-Non Finnish (NFE) AF: 0.249 AC: 16907 AN: 68002

Other (OTH) AF: 0.389 AC: 819 AN: 2106

Alfa AF: 0.248 Hom.: 1003

Bravo AF: 0.441

Asia WGS AF: 0.376 AC: 1310 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	2.0
DANN	Benign	0.44
PhyloP100		-0.078

Splicing

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

Other links and lift over

dbSNP: rs8015351; hg19: chr14-49888385;