rs7752591

Variant names:

• chr6-151625933-G-A
• rs7752591

Your query was ambiguous. Multiple possible variants found:

• chr6-151625933-G-A
• chr6-151625933-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 0.559 in 152,042 control chromosomes in the GnomAD database, including 24,953 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 0.56 (24953 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00400
• Publications: 25 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.731 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: 0.559 AC: 84943 AN: 151924 Hom.: 24918 Cov.: 32

Gnomad AFR AF: 0.738

Gnomad AMI AF: 0.348

Gnomad AMR AF: 0.430

Gnomad ASJ AF: 0.550

Gnomad EAS AF: 0.419

Gnomad SAS AF: 0.517

Gnomad FIN AF: 0.448

Gnomad MID AF: 0.598

Gnomad NFE AF: 0.513

Gnomad OTH AF: 0.568

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

GnomAD4 genome AF: 0.559 AC: 85020 AN: 152042 Hom.: 24953 Cov.: 32 AF XY: 0.552 AC XY: 41031 AN XY: 74320

African (AFR) AF: 0.738 AC: 30610 AN: 41498

American (AMR) AF: 0.429 AC: 6553 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.550 AC: 1906 AN: 3468

East Asian (EAS) AF: 0.419 AC: 2167 AN: 5174

South Asian (SAS) AF: 0.516 AC: 2487 AN: 4816

European-Finnish (FIN) AF: 0.448 AC: 4723 AN: 10544

Middle Eastern (MID) AF: 0.602 AC: 177 AN: 294

European-Non Finnish (NFE) AF: 0.513 AC: 34876 AN: 67946

Other (OTH) AF: 0.571 AC: 1204 AN: 2108

Alfa AF: 0.524 Hom.: 96569

Bravo AF: 0.564

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	2.0
DANN	Benign	0.75
PhyloP100		-0.0040

Splicing

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

Other links and lift over

dbSNP: rs7752591; hg19: chr6-151947068;