rs7805887

Variant names:

• chr7-155031766-A-G
• rs7805887

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 0.337 in 152,028 control chromosomes in the GnomAD database, including 8,649 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 0.34 (8649 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.55

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.07).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.364 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: 0.337 AC: 51150 AN: 151910 Hom.: 8614 Cov.: 33

Gnomad AFR AF: 0.350

Gnomad AMI AF: 0.289

Gnomad AMR AF: 0.329

Gnomad ASJ AF: 0.307

Gnomad EAS AF: 0.379

Gnomad SAS AF: 0.347

Gnomad FIN AF: 0.395

Gnomad MID AF: 0.354

Gnomad NFE AF: 0.319

Gnomad OTH AF: 0.345

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

GnomAD4 genome AF: 0.337 AC: 51239 AN: 152028 Hom.: 8649 Cov.: 33 AF XY: 0.340 AC XY: 25291 AN XY: 74304

Gnomad4 AFR AF: 0.351

Gnomad4 AMR AF: 0.329

Gnomad4 ASJ AF: 0.307

Gnomad4 EAS AF: 0.378

Gnomad4 SAS AF: 0.347

Gnomad4 FIN AF: 0.395

Gnomad4 NFE AF: 0.319

Gnomad4 OTH AF: 0.351

Alfa AF: 0.340 Hom.: 1102

Bravo AF: 0.333

Asia WGS AF: 0.407 AC: 1416 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	1.1
DANN	Benign	0.33

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7805887; hg19: chr7-154823476;