chr6-66466866-A-ATCCAATAG

Variant names:

• chr6-66466866-A-ATCCAATAG
• rs3030826

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.61 (30968 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.29
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.928 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: 0.610 AC: 92044 AN: 150960 Hom.: 30960 Cov.: 0

Gnomad AFR AF: 0.300

Gnomad AMI AF: 0.593

Gnomad AMR AF: 0.737

Gnomad ASJ AF: 0.718

Gnomad EAS AF: 0.950

Gnomad SAS AF: 0.737

Gnomad FIN AF: 0.636

Gnomad MID AF: 0.719

Gnomad NFE AF: 0.723

Gnomad OTH AF: 0.669

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

GnomAD4 genome AF: 0.609 AC: 92057 AN: 151078 Hom.: 30968 Cov.: 0 AF XY: 0.611 AC XY: 45072 AN XY: 73770

African (AFR) AF: 0.300 AC: 12375 AN: 41310

American (AMR) AF: 0.737 AC: 11132 AN: 15106

Ashkenazi Jewish (ASJ) AF: 0.718 AC: 2483 AN: 3456

East Asian (EAS) AF: 0.951 AC: 4834 AN: 5084

South Asian (SAS) AF: 0.737 AC: 3539 AN: 4800

European-Finnish (FIN) AF: 0.636 AC: 6635 AN: 10428

Middle Eastern (MID) AF: 0.726 AC: 209 AN: 288

European-Non Finnish (NFE) AF: 0.723 AC: 48902 AN: 67600

Other (OTH) AF: 0.672 AC: 1410 AN: 2098

Alfa AF: 0.572 Hom.: 2531

Asia WGS AF: 0.788 AC: 2741 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-1.3

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs3030826; hg19: chr6-67176759;