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. The variant received -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
• Publications: 8 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.717 AC: 29723 AN: 41432

American (AMR) AF: 0.497 AC: 7589 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.339 AC: 1175 AN: 3468

East Asian (EAS) AF: 0.590 AC: 3050 AN: 5170

South Asian (SAS) AF: 0.533 AC: 2566 AN: 4810

European-Finnish (FIN) AF: 0.407 AC: 4291 AN: 10550

Middle Eastern (MID) AF: 0.459 AC: 135 AN: 294

European-Non Finnish (NFE) AF: 0.339 AC: 23017 AN: 67956

Other (OTH) AF: 0.485 AC: 1022 AN: 2108

Alfa AF: 0.385 Hom.: 39017

Bravo AF: 0.493

Asia WGS AF: 0.630 AC: 2184 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.63
DANN	Benign	0.32
PhyloP100		-0.35

Splicing

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

Other links and lift over

dbSNP: rs1591830; hg19: chr6-150651900;