rs7752591

chr6-151625933-G-Achr6-151625933-G-T

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 0.559 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.738

Gnomad4 AMR AF: 0.429

Gnomad4 ASJ AF: 0.550

Gnomad4 EAS AF: 0.419

Gnomad4 SAS AF: 0.516

Gnomad4 FIN AF: 0.448

Gnomad4 NFE AF: 0.513

Gnomad4 OTH AF: 0.571

Alfa AF: 0.521 Hom.: 48369

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7752591; hg19: chr6-151947068;