rs2173114

Variant names:

• chr8-20185414-C-G
• rs2173114

Your query was ambiguous. Multiple possible variants found:

• chr8-20185414-C-G
• chr8-20185414-C-T

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 0.364 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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.137 AC: 5652 AN: 41354

American (AMR) AF: 0.314 AC: 4789 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.503 AC: 1748 AN: 3472

East Asian (EAS) AF: 0.172 AC: 887 AN: 5166

South Asian (SAS) AF: 0.474 AC: 2280 AN: 4808

European-Finnish (FIN) AF: 0.501 AC: 5240 AN: 10464

Middle Eastern (MID) AF: 0.490 AC: 143 AN: 292

European-Non Finnish (NFE) AF: 0.488 AC: 33135 AN: 67916

Other (OTH) AF: 0.392 AC: 829 AN: 2114

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 v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	2.9
DANN	Benign	0.60
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs2173114; hg19: chr8-20042925;