rs7846385

Variant names:

• chr8-77247943-T-C
• rs7846385

Your query was ambiguous. Multiple possible variants found:

• chr8-77247943-T-C
• chr8-77247943-T-G

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 0.232 in 151,922 control chromosomes in the GnomAD database, including 4,477 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 0.23 (4477 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.424
• Publications: 37 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.283 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: 0.232 AC: 35273 AN: 151802 Hom.: 4477 Cov.: 31

Gnomad AFR AF: 0.132

Gnomad AMI AF: 0.456

Gnomad AMR AF: 0.244

Gnomad ASJ AF: 0.256

Gnomad EAS AF: 0.196

Gnomad SAS AF: 0.287

Gnomad FIN AF: 0.223

Gnomad MID AF: 0.275

Gnomad NFE AF: 0.286

Gnomad OTH AF: 0.246

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

GnomAD4 genome AF: 0.232 AC: 35281 AN: 151922 Hom.: 4477 Cov.: 31 AF XY: 0.234 AC XY: 17343 AN XY: 74256

African (AFR) AF: 0.132 AC: 5470 AN: 41460

American (AMR) AF: 0.244 AC: 3709 AN: 15218

Ashkenazi Jewish (ASJ) AF: 0.256 AC: 889 AN: 3468

East Asian (EAS) AF: 0.197 AC: 1011 AN: 5144

South Asian (SAS) AF: 0.286 AC: 1375 AN: 4810

European-Finnish (FIN) AF: 0.223 AC: 2360 AN: 10564

Middle Eastern (MID) AF: 0.279 AC: 82 AN: 294

European-Non Finnish (NFE) AF: 0.286 AC: 19445 AN: 67948

Other (OTH) AF: 0.249 AC: 525 AN: 2106

Alfa AF: 0.271 Hom.: 25171

Bravo AF: 0.227

Asia WGS AF: 0.239 AC: 833 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	2.2
DANN	Benign	0.56
PhyloP100		-0.42

Splicing

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

Other links and lift over

dbSNP: rs7846385; hg19: chr8-78160179;