rs4483064

Variant names:

• chr7-35703475-G-A
• rs4483064

Your query was ambiguous. Multiple possible variants found:

• chr7-35703475-G-A
• chr7-35703475-G-C
• chr7-35703475-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 0.645 in 152,104 control chromosomes in the GnomAD database, including 32,855 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 0.65 (32855 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.07
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.818 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: 0.645 AC: 98026 AN: 151986 Hom.: 32817 Cov.: 32

Gnomad AFR AF: 0.825

Gnomad AMI AF: 0.659

Gnomad AMR AF: 0.599

Gnomad ASJ AF: 0.629

Gnomad EAS AF: 0.731

Gnomad SAS AF: 0.680

Gnomad FIN AF: 0.531

Gnomad MID AF: 0.560

Gnomad NFE AF: 0.556

Gnomad OTH AF: 0.634

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

GnomAD4 genome AF: 0.645 AC: 98124 AN: 152104 Hom.: 32855 Cov.: 32 AF XY: 0.644 AC XY: 47873 AN XY: 74336

African (AFR) AF: 0.825 AC: 34272 AN: 41528

American (AMR) AF: 0.598 AC: 9149 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.629 AC: 2181 AN: 3470

East Asian (EAS) AF: 0.730 AC: 3774 AN: 5168

South Asian (SAS) AF: 0.679 AC: 3267 AN: 4812

European-Finnish (FIN) AF: 0.531 AC: 5602 AN: 10542

Middle Eastern (MID) AF: 0.541 AC: 159 AN: 294

European-Non Finnish (NFE) AF: 0.556 AC: 37774 AN: 67972

Other (OTH) AF: 0.636 AC: 1345 AN: 2114

Alfa AF: 0.601 Hom.: 5383

Bravo AF: 0.659

Asia WGS AF: 0.730 AC: 2537 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.098
DANN	Benign	0.39
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs4483064; hg19: chr7-35743085;