rs6814718

Variant names:

• chr4-122502161-T-C
• rs6814718

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 0.758 in 152,126 control chromosomes in the GnomAD database, including 43,860 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 0.76 (43860 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.50
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.841 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: 0.758 AC: 115170 AN: 152008 Hom.: 43819 Cov.: 32

Gnomad AFR AF: 0.762

Gnomad AMI AF: 0.587

Gnomad AMR AF: 0.802

Gnomad ASJ AF: 0.704

Gnomad EAS AF: 0.862

Gnomad SAS AF: 0.837

Gnomad FIN AF: 0.860

Gnomad MID AF: 0.804

Gnomad NFE AF: 0.721

Gnomad OTH AF: 0.746

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

GnomAD4 genome AF: 0.758 AC: 115268 AN: 152126 Hom.: 43860 Cov.: 32 AF XY: 0.767 AC XY: 57060 AN XY: 74384

African (AFR) AF: 0.762 AC: 31625 AN: 41484

American (AMR) AF: 0.802 AC: 12252 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.704 AC: 2442 AN: 3470

East Asian (EAS) AF: 0.862 AC: 4459 AN: 5172

South Asian (SAS) AF: 0.836 AC: 4033 AN: 4826

European-Finnish (FIN) AF: 0.860 AC: 9116 AN: 10606

Middle Eastern (MID) AF: 0.803 AC: 236 AN: 294

European-Non Finnish (NFE) AF: 0.721 AC: 48988 AN: 67976

Other (OTH) AF: 0.749 AC: 1583 AN: 2114

Alfa AF: 0.762 Hom.: 10195

Bravo AF: 0.752

Asia WGS AF: 0.826 AC: 2871 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.67
DANN	Benign	0.52
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs6814718; hg19: chr4-123423316;