rs975730

Positions:

• chr8-128303768-G-A
• chr8-128303768-G-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 0.455 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.624

Gnomad4 AMR AF: 0.415

Gnomad4 ASJ AF: 0.435

Gnomad4 EAS AF: 0.670

Gnomad4 SAS AF: 0.548

Gnomad4 FIN AF: 0.283

Gnomad4 NFE AF: 0.364

Gnomad4 OTH AF: 0.460

Alfa AF: 0.380 Hom.: 16825

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs975730; hg19: chr8-129316014;