rs7635818

Variant names:

• chr3-74734325-G-C
• rs7635818

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 0.396 in 152,020 control chromosomes in the GnomAD database, including 12,809 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 0.40 (12809 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.156
• Publications: 13 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.447 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: 0.396 AC: 60205 AN: 151902 Hom.: 12806 Cov.: 32

Gnomad AFR AF: 0.348

Gnomad AMI AF: 0.532

Gnomad AMR AF: 0.323

Gnomad ASJ AF: 0.465

Gnomad EAS AF: 0.0116

Gnomad SAS AF: 0.270

Gnomad FIN AF: 0.551

Gnomad MID AF: 0.369

Gnomad NFE AF: 0.452

Gnomad OTH AF: 0.389

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

GnomAD4 genome AF: 0.396 AC: 60224 AN: 152020 Hom.: 12809 Cov.: 32 AF XY: 0.395 AC XY: 29377 AN XY: 74314

African (AFR) AF: 0.348 AC: 14425 AN: 41468

American (AMR) AF: 0.323 AC: 4927 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.465 AC: 1614 AN: 3470

East Asian (EAS) AF: 0.0116 AC: 60 AN: 5182

South Asian (SAS) AF: 0.269 AC: 1299 AN: 4822

European-Finnish (FIN) AF: 0.551 AC: 5807 AN: 10542

Middle Eastern (MID) AF: 0.373 AC: 109 AN: 292

European-Non Finnish (NFE) AF: 0.452 AC: 30685 AN: 67956

Other (OTH) AF: 0.386 AC: 815 AN: 2112

Alfa AF: 0.426 Hom.: 1766

Bravo AF: 0.377

Asia WGS AF: 0.164 AC: 572 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.4
DANN	Benign	0.39
PhyloP100		0.16

Splicing

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

Other links and lift over

dbSNP: rs7635818; hg19: chr3-74783476;