8-118112204-C-G

Variant names:

• chr8-118112204-C-G
• rs34016643

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 0.0375 in 150,814 control chromosomes in the GnomAD database, including 141 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 0.037 (141 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.178
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.76).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0575 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: 0.0375 AC: 5651 AN: 150704 Hom.: 141 Cov.: 31

Gnomad AFR AF: 0.0102

Gnomad AMI AF: 0.0209

Gnomad AMR AF: 0.0330

Gnomad ASJ AF: 0.0413

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.0108

Gnomad FIN AF: 0.0416

Gnomad MID AF: 0.0419

Gnomad NFE AF: 0.0591

Gnomad OTH AF: 0.0507

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

GnomAD4 genome AF: 0.0375 AC: 5649 AN: 150814 Hom.: 141 Cov.: 31 AF XY: 0.0352 AC XY: 2590 AN XY: 73602

African (AFR) AF: 0.0102 AC: 421 AN: 41438

American (AMR) AF: 0.0329 AC: 501 AN: 15216

Ashkenazi Jewish (ASJ) AF: 0.0413 AC: 141 AN: 3416

East Asian (EAS) AF: 0.00 AC: 0 AN: 5124

South Asian (SAS) AF: 0.0108 AC: 52 AN: 4820

European-Finnish (FIN) AF: 0.0416 AC: 433 AN: 10398

Middle Eastern (MID) AF: 0.0483 AC: 14 AN: 290

European-Non Finnish (NFE) AF: 0.0591 AC: 3963 AN: 67110

Other (OTH) AF: 0.0502 AC: 105 AN: 2092

Alfa AF: 0.0242 Hom.: 18

Bravo AF: 0.0363

Asia WGS AF: 0.00786 AC: 27 AN: 3448

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.76
CADD	Benign	5.1
DANN	Benign	0.66
PhyloP100		-0.18
PromoterAI		-0.040	Neutral

Splicing

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

Other links and lift over

dbSNP: rs34016643; hg19: chr8-119124443;