rs1583830

Variant names:

• chr7-155044300-G-A
• rs1583830

Your query was ambiguous. Multiple possible variants found:

• chr7-155044300-G-A
• chr7-155044300-G-T

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 0.51 in 151,868 control chromosomes in the GnomAD database, including 21,624 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 0.51 (21624 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.244
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.629 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: 0.510 AC: 77456 AN: 151750 Hom.: 21624 Cov.: 31

Gnomad AFR AF: 0.286

Gnomad AMI AF: 0.593

Gnomad AMR AF: 0.591

Gnomad ASJ AF: 0.626

Gnomad EAS AF: 0.251

Gnomad SAS AF: 0.565

Gnomad FIN AF: 0.526

Gnomad MID AF: 0.579

Gnomad NFE AF: 0.634

Gnomad OTH AF: 0.535

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

GnomAD4 genome AF: 0.510 AC: 77471 AN: 151868 Hom.: 21624 Cov.: 31 AF XY: 0.507 AC XY: 37636 AN XY: 74222

African (AFR) AF: 0.285 AC: 11810 AN: 41384

American (AMR) AF: 0.591 AC: 9020 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.626 AC: 2172 AN: 3470

East Asian (EAS) AF: 0.250 AC: 1288 AN: 5142

South Asian (SAS) AF: 0.566 AC: 2719 AN: 4804

European-Finnish (FIN) AF: 0.526 AC: 5551 AN: 10546

Middle Eastern (MID) AF: 0.565 AC: 166 AN: 294

European-Non Finnish (NFE) AF: 0.634 AC: 43091 AN: 67946

Other (OTH) AF: 0.528 AC: 1114 AN: 2108

Alfa AF: 0.604 Hom.: 48215

Bravo AF: 0.502

Asia WGS AF: 0.395 AC: 1372 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	4.0
DANN	Benign	0.53
PhyloP100		0.24

Splicing

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

Other links and lift over

dbSNP: rs1583830; hg19: chr7-154836010;