rs8081000

Variant names:

• chr17-43637865-G-A
• rs8081000

Your query was ambiguous. Multiple possible variants found:

• chr17-43637865-G-A
• chr17-43637865-G-C

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 0.537 in 151,958 control chromosomes in the GnomAD database, including 22,244 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 0.54 (22244 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.383
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• 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: 0.538 AC: 81649 AN: 151840 Hom.: 22239 Cov.: 32

Gnomad AFR AF: 0.466

Gnomad AMI AF: 0.559

Gnomad AMR AF: 0.548

Gnomad ASJ AF: 0.669

Gnomad EAS AF: 0.650

Gnomad SAS AF: 0.506

Gnomad FIN AF: 0.538

Gnomad MID AF: 0.646

Gnomad NFE AF: 0.564

Gnomad OTH AF: 0.570

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

GnomAD4 genome AF: 0.537 AC: 81667 AN: 151958 Hom.: 22244 Cov.: 32 AF XY: 0.539 AC XY: 40013 AN XY: 74262

African (AFR) AF: 0.465 AC: 19269 AN: 41410

American (AMR) AF: 0.548 AC: 8366 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.669 AC: 2320 AN: 3468

East Asian (EAS) AF: 0.649 AC: 3352 AN: 5162

South Asian (SAS) AF: 0.506 AC: 2437 AN: 4816

European-Finnish (FIN) AF: 0.538 AC: 5672 AN: 10552

Middle Eastern (MID) AF: 0.646 AC: 190 AN: 294

European-Non Finnish (NFE) AF: 0.564 AC: 38357 AN: 67962

Other (OTH) AF: 0.568 AC: 1194 AN: 2102

Alfa AF: 0.557 Hom.: 17511

Bravo AF: 0.534

Asia WGS AF: 0.567 AC: 1971 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	3.5
DANN	Benign	0.66
PhyloP100		0.38

Splicing

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

Other links and lift over

dbSNP: rs8081000; hg19: chr17-41715233;