rs830889

Variant names:

• chr5-52616519-A-T
• rs830889

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 0.118 in 152,154 control chromosomes in the GnomAD database, including 1,165 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 0.12 (1165 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.95

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.153 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: 0.118 AC: 17906 AN: 152036 Hom.: 1164 Cov.: 32

Gnomad AFR AF: 0.156

Gnomad AMI AF: 0.208

Gnomad AMR AF: 0.125

Gnomad ASJ AF: 0.117

Gnomad EAS AF: 0.145

Gnomad SAS AF: 0.0888

Gnomad FIN AF: 0.0529

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.102

Gnomad OTH AF: 0.122

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

GnomAD4 genome AF: 0.118 AC: 17926 AN: 152154 Hom.: 1165 Cov.: 32 AF XY: 0.114 AC XY: 8493 AN XY: 74380

Gnomad4 AFR AF: 0.156

Gnomad4 AMR AF: 0.125

Gnomad4 ASJ AF: 0.117

Gnomad4 EAS AF: 0.145

Gnomad4 SAS AF: 0.0876

Gnomad4 FIN AF: 0.0529

Gnomad4 NFE AF: 0.102

Gnomad4 OTH AF: 0.125

Alfa AF: 0.108 Hom.: 110

Bravo AF: 0.128

Asia WGS AF: 0.130 AC: 454 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.049
DANN	Benign	0.35

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs830889; hg19: chr5-51912353;