rs4735085

Variant names:

• chr8-109064183-A-C
• rs4735085

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 0.293 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
• Publications: 3 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 (AMR) allele frequency at 95% confidence interval = 0.422 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.194 AC: 8043 AN: 41514

American (AMR) AF: 0.431 AC: 6574 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.312 AC: 1084 AN: 3470

East Asian (EAS) AF: 0.148 AC: 767 AN: 5180

South Asian (SAS) AF: 0.355 AC: 1712 AN: 4822

European-Finnish (FIN) AF: 0.354 AC: 3733 AN: 10556

Middle Eastern (MID) AF: 0.364 AC: 107 AN: 294

European-Non Finnish (NFE) AF: 0.319 AC: 21699 AN: 67992

Other (OTH) AF: 0.335 AC: 708 AN: 2112

Alfa AF: 0.309 Hom.: 3015

Bravo AF: 0.290

Asia WGS AF: 0.256 AC: 892 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	3.9
DANN	Benign	0.58
PhyloP100		-0.035

Splicing

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

Other links and lift over

dbSNP: rs4735085; hg19: chr8-110076412;