6-66466866-ATCCAATAG-ATCCAATAGTCCAATAG

Variant names:

• chr6-66466866-A-ATCCAATAG
• rs3030826

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.928 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: 0.610 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

Gnomad4 AFR AF: 0.300

Gnomad4 AMR AF: 0.737

Gnomad4 ASJ AF: 0.718

Gnomad4 EAS AF: 0.951

Gnomad4 SAS AF: 0.737

Gnomad4 FIN AF: 0.636

Gnomad4 NFE AF: 0.723

Gnomad4 OTH AF: 0.672

Alfa AF: 0.572 Hom.: 2531

Asia WGS AF: 0.788 AC: 2741 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3030826; hg19: chr6-67176759;