rs7805803

Positions:

• chr7-50185795-G-A

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 0.407 in 152,014 control chromosomes in the GnomAD database, including 13,055 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 0.41 (13055 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.238

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.462 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.407 AC: 61854 AN: 151896 Hom.: 13051 Cov.: 32

Gnomad AFR AF: 0.349

Gnomad AMI AF: 0.473

Gnomad AMR AF: 0.447

Gnomad ASJ AF: 0.458

Gnomad EAS AF: 0.187

Gnomad SAS AF: 0.195

Gnomad FIN AF: 0.380

Gnomad MID AF: 0.468

Gnomad NFE AF: 0.466

Gnomad OTH AF: 0.406

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

GnomAD4 genome AF: 0.407 AC: 61868 AN: 152014 Hom.: 13055 Cov.: 32 AF XY: 0.400 AC XY: 29696 AN XY: 74302

Gnomad4 AFR AF: 0.348

Gnomad4 AMR AF: 0.447

Gnomad4 ASJ AF: 0.458

Gnomad4 EAS AF: 0.188

Gnomad4 SAS AF: 0.195

Gnomad4 FIN AF: 0.380

Gnomad4 NFE AF: 0.466

Gnomad4 OTH AF: 0.401

Alfa AF: 0.448 Hom.: 33277

Bravo AF: 0.410

Asia WGS AF: 0.191 AC: 662 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	1.2
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7805803; hg19: chr7-50225391;