8-43840091-G-T

Variant names:

• chr8-43840091-G-T
• rs58810682

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 0.147 in 149,578 control chromosomes in the GnomAD database, including 2,060 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 0.15 (2060 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.293 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: 0.148 AC: 22048 AN: 149460 Hom.: 2053 Cov.: 32

Gnomad AFR AF: 0.0353

Gnomad AMI AF: 0.130

Gnomad AMR AF: 0.171

Gnomad ASJ AF: 0.246

Gnomad EAS AF: 0.205

Gnomad SAS AF: 0.305

Gnomad FIN AF: 0.213

Gnomad MID AF: 0.180

Gnomad NFE AF: 0.180

Gnomad OTH AF: 0.166

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

GnomAD4 genome AF: 0.147 AC: 22061 AN: 149578 Hom.: 2060 Cov.: 32 AF XY: 0.153 AC XY: 11153 AN XY: 73032

African (AFR) AF: 0.0352 AC: 1448 AN: 41078

American (AMR) AF: 0.171 AC: 2555 AN: 14926

Ashkenazi Jewish (ASJ) AF: 0.246 AC: 840 AN: 3410

East Asian (EAS) AF: 0.205 AC: 1022 AN: 4988

South Asian (SAS) AF: 0.306 AC: 1466 AN: 4784

European-Finnish (FIN) AF: 0.213 AC: 2243 AN: 10520

Middle Eastern (MID) AF: 0.185 AC: 53 AN: 286

European-Non Finnish (NFE) AF: 0.180 AC: 11977 AN: 66620

Other (OTH) AF: 0.165 AC: 340 AN: 2064

Alfa AF: 0.0884 Hom.: 379

Bravo AF: 0.137

Asia WGS AF: 0.234 AC: 810 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	1.0
DANN	Benign	0.43

Splicing

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

Other links and lift over

dbSNP: rs58810682; hg19: chr8-43695234;