rs1457463

Variant names:

• chr8-134087535-G-A
• rs1457463

Your query was ambiguous. Multiple possible variants found:

• chr8-134087535-G-A
• chr8-134087535-G-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 0.597 in 152,184 control chromosomes in the GnomAD database, including 29,353 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 0.60 (29353 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.431
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.849 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: 0.597 AC: 90756 AN: 152066 Hom.: 29315 Cov.: 32

Gnomad AFR AF: 0.856

Gnomad AMI AF: 0.689

Gnomad AMR AF: 0.489

Gnomad ASJ AF: 0.512

Gnomad EAS AF: 0.241

Gnomad SAS AF: 0.366

Gnomad FIN AF: 0.422

Gnomad MID AF: 0.602

Gnomad NFE AF: 0.537

Gnomad OTH AF: 0.592

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

GnomAD4 genome AF: 0.597 AC: 90849 AN: 152184 Hom.: 29353 Cov.: 32 AF XY: 0.584 AC XY: 43464 AN XY: 74390

African (AFR) AF: 0.856 AC: 35560 AN: 41530

American (AMR) AF: 0.489 AC: 7479 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.512 AC: 1777 AN: 3468

East Asian (EAS) AF: 0.241 AC: 1251 AN: 5184

South Asian (SAS) AF: 0.365 AC: 1760 AN: 4826

European-Finnish (FIN) AF: 0.422 AC: 4461 AN: 10566

Middle Eastern (MID) AF: 0.599 AC: 175 AN: 292

European-Non Finnish (NFE) AF: 0.537 AC: 36519 AN: 67992

Other (OTH) AF: 0.586 AC: 1239 AN: 2114

Alfa AF: 0.564 Hom.: 30660

Bravo AF: 0.614

Asia WGS AF: 0.329 AC: 1147 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.078
DANN	Benign	0.42
PhyloP100		-0.43

Splicing

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

Other links and lift over

dbSNP: rs1457463; hg19: chr8-135099778;