rs975730

Variant names:

• chr8-128303768-G-A
• rs975730

Your query was ambiguous. Multiple possible variants found:

• chr8-128303768-G-A
• chr8-128303768-G-C
• chr8-128303768-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 0.455 in 152,068 control chromosomes in the GnomAD database, including 16,951 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 0.46 (16951 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0610
• Publications: 20 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.651 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: 0.455 AC: 69116 AN: 151950 Hom.: 16926 Cov.: 33

Gnomad AFR AF: 0.624

Gnomad AMI AF: 0.540

Gnomad AMR AF: 0.415

Gnomad ASJ AF: 0.435

Gnomad EAS AF: 0.669

Gnomad SAS AF: 0.546

Gnomad FIN AF: 0.283

Gnomad MID AF: 0.446

Gnomad NFE AF: 0.364

Gnomad OTH AF: 0.457

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

GnomAD4 genome AF: 0.455 AC: 69198 AN: 152068 Hom.: 16951 Cov.: 33 AF XY: 0.455 AC XY: 33816 AN XY: 74332

African (AFR) AF: 0.624 AC: 25890 AN: 41472

American (AMR) AF: 0.415 AC: 6339 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.435 AC: 1509 AN: 3472

East Asian (EAS) AF: 0.670 AC: 3476 AN: 5190

South Asian (SAS) AF: 0.548 AC: 2639 AN: 4814

European-Finnish (FIN) AF: 0.283 AC: 2990 AN: 10566

Middle Eastern (MID) AF: 0.456 AC: 134 AN: 294

European-Non Finnish (NFE) AF: 0.364 AC: 24758 AN: 67948

Other (OTH) AF: 0.460 AC: 972 AN: 2114

Alfa AF: 0.398 Hom.: 43866

Bravo AF: 0.473

Asia WGS AF: 0.617 AC: 2143 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	1.2
DANN	Benign	0.36
PhyloP100		-0.061

Splicing

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

Other links and lift over

dbSNP: rs975730; hg19: chr8-129316014;