chr8-20185414-C-G

Variant names:

• chr8-20185414-C-G
• rs2173114

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.364 in 151,746 control chromosomes in the GnomAD database, including 12,018 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 0.36 (12018 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.119

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.483 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: 0.364 AC: 55152 AN: 151628 Hom.: 12016 Cov.: 31

Gnomad AFR AF: 0.137

Gnomad AMI AF: 0.504

Gnomad AMR AF: 0.315

Gnomad ASJ AF: 0.503

Gnomad EAS AF: 0.171

Gnomad SAS AF: 0.472

Gnomad FIN AF: 0.501

Gnomad MID AF: 0.497

Gnomad NFE AF: 0.488

Gnomad OTH AF: 0.390

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

GnomAD4 genome AF: 0.364 AC: 55163 AN: 151746 Hom.: 12018 Cov.: 31 AF XY: 0.365 AC XY: 27067 AN XY: 74106

Gnomad4 AFR AF: 0.137

Gnomad4 AMR AF: 0.314

Gnomad4 ASJ AF: 0.503

Gnomad4 EAS AF: 0.172

Gnomad4 SAS AF: 0.474

Gnomad4 FIN AF: 0.501

Gnomad4 NFE AF: 0.488

Gnomad4 OTH AF: 0.392

Alfa AF: 0.408 Hom.: 1708

Bravo AF: 0.340

Asia WGS AF: 0.335 AC: 1166 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	2.9
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2173114; hg19: chr8-20042925;