rs7848810

Variant names:

• chr9-90645576-C-A
• rs7848810

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 0.288 in 152,078 control chromosomes in the GnomAD database, including 6,483 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 0.29 (6483 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.28

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.343 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: 0.289 AC: 43848 AN: 151960 Hom.: 6487 Cov.: 32

Gnomad AFR AF: 0.271

Gnomad AMI AF: 0.271

Gnomad AMR AF: 0.244

Gnomad ASJ AF: 0.342

Gnomad EAS AF: 0.356

Gnomad SAS AF: 0.357

Gnomad FIN AF: 0.276

Gnomad MID AF: 0.437

Gnomad NFE AF: 0.296

Gnomad OTH AF: 0.341

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

GnomAD4 genome AF: 0.288 AC: 43850 AN: 152078 Hom.: 6483 Cov.: 32 AF XY: 0.291 AC XY: 21603 AN XY: 74340

Gnomad4 AFR AF: 0.271

Gnomad4 AMR AF: 0.244

Gnomad4 ASJ AF: 0.342

Gnomad4 EAS AF: 0.356

Gnomad4 SAS AF: 0.357

Gnomad4 FIN AF: 0.276

Gnomad4 NFE AF: 0.296

Gnomad4 OTH AF: 0.340

Alfa AF: 0.282 Hom.: 2142

Bravo AF: 0.285

Asia WGS AF: 0.299 AC: 1039 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	6.8
DANN	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7848810; hg19: chr9-93407858; COSMIC: COSV65370186;