rs1591830

Variant names:

• chr6-150330764-G-A
• rs1591830

Your query was ambiguous. Multiple possible variants found:

• chr6-150330764-G-A
• chr6-150330764-G-C

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 0.48 in 151,974 control chromosomes in the GnomAD database, including 19,505 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 0.48 (19505 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.350

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.711 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: 0.480 AC: 72839 AN: 151856 Hom.: 19461 Cov.: 32

Gnomad AFR AF: 0.717

Gnomad AMI AF: 0.405

Gnomad AMR AF: 0.497

Gnomad ASJ AF: 0.339

Gnomad EAS AF: 0.590

Gnomad SAS AF: 0.534

Gnomad FIN AF: 0.407

Gnomad MID AF: 0.478

Gnomad NFE AF: 0.339

Gnomad OTH AF: 0.482

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

GnomAD4 genome AF: 0.480 AC: 72936 AN: 151974 Hom.: 19505 Cov.: 32 AF XY: 0.485 AC XY: 36024 AN XY: 74270

Gnomad4 AFR AF: 0.717

Gnomad4 AMR AF: 0.497

Gnomad4 ASJ AF: 0.339

Gnomad4 EAS AF: 0.590

Gnomad4 SAS AF: 0.533

Gnomad4 FIN AF: 0.407

Gnomad4 NFE AF: 0.339

Gnomad4 OTH AF: 0.485

Alfa AF: 0.367 Hom.: 13401

Bravo AF: 0.493

Asia WGS AF: 0.630 AC: 2184 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	0.63
DANN	Benign	0.32

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1591830; hg19: chr6-150651900;