rs735718

Variant names:

• chr3-70733046-A-G
• rs735718

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 0.0962 in 152,218 control chromosomes in the GnomAD database, including 943 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 0.096 (943 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.655
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.131 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: 0.0963 AC: 14642 AN: 152100 Hom.: 943 Cov.: 32

Gnomad AFR AF: 0.0270

Gnomad AMI AF: 0.113

Gnomad AMR AF: 0.117

Gnomad ASJ AF: 0.145

Gnomad EAS AF: 0.00116

Gnomad SAS AF: 0.0711

Gnomad FIN AF: 0.139

Gnomad MID AF: 0.146

Gnomad NFE AF: 0.133

Gnomad OTH AF: 0.103

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

GnomAD4 genome AF: 0.0962 AC: 14646 AN: 152218 Hom.: 943 Cov.: 32 AF XY: 0.0948 AC XY: 7057 AN XY: 74420

African (AFR) AF: 0.0269 AC: 1120 AN: 41562

American (AMR) AF: 0.118 AC: 1795 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.145 AC: 503 AN: 3470

East Asian (EAS) AF: 0.00135 AC: 7 AN: 5168

South Asian (SAS) AF: 0.0712 AC: 344 AN: 4834

European-Finnish (FIN) AF: 0.139 AC: 1470 AN: 10596

Middle Eastern (MID) AF: 0.144 AC: 42 AN: 292

European-Non Finnish (NFE) AF: 0.133 AC: 9047 AN: 68002

Other (OTH) AF: 0.102 AC: 215 AN: 2112

Alfa AF: 0.107 Hom.: 1014

Bravo AF: 0.0926

Asia WGS AF: 0.0340 AC: 120 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	6.7
DANN	Benign	0.51
PhyloP100		0.66

Splicing

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

Other links and lift over

dbSNP: rs735718; hg19: chr3-70782197;