rs4735085

chr8-109064183-A-C

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 0.293 in 152,120 control chromosomes in the GnomAD database, including 7,055 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 0.29 (7055 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0350

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.422 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: 0.293 AC: 44488 AN: 152000 Hom.: 7038 Cov.: 33

Gnomad AFR AF: 0.193

Gnomad AMI AF: 0.142

Gnomad AMR AF: 0.430

Gnomad ASJ AF: 0.312

Gnomad EAS AF: 0.148

Gnomad SAS AF: 0.354

Gnomad FIN AF: 0.354

Gnomad MID AF: 0.367

Gnomad NFE AF: 0.319

Gnomad OTH AF: 0.331

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

GnomAD4 genome AF: 0.293 AC: 44556 AN: 152120 Hom.: 7055 Cov.: 33 AF XY: 0.300 AC XY: 22299 AN XY: 74352

Gnomad4 AFR AF: 0.194

Gnomad4 AMR AF: 0.431

Gnomad4 ASJ AF: 0.312

Gnomad4 EAS AF: 0.148

Gnomad4 SAS AF: 0.355

Gnomad4 FIN AF: 0.354

Gnomad4 NFE AF: 0.319

Gnomad4 OTH AF: 0.335

Alfa AF: 0.308 Hom.: 1969

Bravo AF: 0.290

Asia WGS AF: 0.256 AC: 892 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	3.9
Dann	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4735085; hg19: chr8-110076412;