rs7843577

Variant names:

• chr8-113971059-C-T
• rs7843577

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 0.409 in 151,894 control chromosomes in the GnomAD database, including 12,890 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 (12890 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.41
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.448 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: 0.409 AC: 62055 AN: 151776 Hom.: 12894 Cov.: 31

Gnomad AFR AF: 0.454

Gnomad AMI AF: 0.422

Gnomad AMR AF: 0.349

Gnomad ASJ AF: 0.404

Gnomad EAS AF: 0.175

Gnomad SAS AF: 0.316

Gnomad FIN AF: 0.373

Gnomad MID AF: 0.442

Gnomad NFE AF: 0.425

Gnomad OTH AF: 0.400

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

GnomAD4 genome AF: 0.409 AC: 62060 AN: 151894 Hom.: 12890 Cov.: 31 AF XY: 0.401 AC XY: 29746 AN XY: 74234

African (AFR) AF: 0.454 AC: 18785 AN: 41410

American (AMR) AF: 0.348 AC: 5309 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.404 AC: 1404 AN: 3472

East Asian (EAS) AF: 0.175 AC: 902 AN: 5160

South Asian (SAS) AF: 0.316 AC: 1525 AN: 4828

European-Finnish (FIN) AF: 0.373 AC: 3928 AN: 10526

Middle Eastern (MID) AF: 0.445 AC: 129 AN: 290

European-Non Finnish (NFE) AF: 0.425 AC: 28858 AN: 67940

Other (OTH) AF: 0.396 AC: 835 AN: 2110

Alfa AF: 0.411 Hom.: 7057

Bravo AF: 0.407

Asia WGS AF: 0.270 AC: 937 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.92
DANN	Benign	0.11
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs7843577; hg19: chr8-114983288;