8-118112204-C-G

Position:

• chr8-118112204-C-G

Variant summary

Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_Strong BP6 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. Variant has been reported in Lovd as Benign (no stars).

• Frequency: Genomes: 𝑓 0.037 (141 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.178

ACMG classification

Verdict is Benign. Variant got -13 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.76).
• BP6: Variant 8-118112204-C-G is Benign according to our data. Variant chr8-118112204-C-G is described in Lovd as [Benign].
• 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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.0102

Gnomad4 AMR AF: 0.0329

Gnomad4 ASJ AF: 0.0413

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.0108

Gnomad4 FIN AF: 0.0416

Gnomad4 NFE AF: 0.0591

Gnomad4 OTH AF: 0.0502

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs34016643; hg19: chr8-119124443;