rs735350

Variant names:

• chr5-109989667-A-G
• rs735350

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 0.0259 in 152,244 control chromosomes in the GnomAD database, including 106 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 0.026 (106 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0880

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0645 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: 0.0258 AC: 3918 AN: 152126 Hom.: 104 Cov.: 32

Gnomad AFR AF: 0.0662

Gnomad AMI AF: 0.00440

Gnomad AMR AF: 0.0122

Gnomad ASJ AF: 0.0159

Gnomad EAS AF: 0.0411

Gnomad SAS AF: 0.0242

Gnomad FIN AF: 0.00179

Gnomad MID AF: 0.0475

Gnomad NFE AF: 0.00750

Gnomad OTH AF: 0.0272

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

GnomAD4 genome AF: 0.0259 AC: 3938 AN: 152244 Hom.: 106 Cov.: 32 AF XY: 0.0255 AC XY: 1899 AN XY: 74444

Gnomad4 AFR AF: 0.0665

Gnomad4 AMR AF: 0.0123

Gnomad4 ASJ AF: 0.0159

Gnomad4 EAS AF: 0.0406

Gnomad4 SAS AF: 0.0247

Gnomad4 FIN AF: 0.00179

Gnomad4 NFE AF: 0.00750

Gnomad4 OTH AF: 0.0279

Alfa AF: 0.0189 Hom.: 14

Bravo AF: 0.0283

Asia WGS AF: 0.0580 AC: 200 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	5.4
DANN	Benign	0.83

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs735350; hg19: chr5-109325368;