chr1-9379785-A-AAAG

Variant names:

• chr1-9379785-A-AAAG
• rs3057847

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

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

• Frequency: Genomes: 𝑓 0.000066 (0 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0610
• Publications: 1 publications found

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

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: 0.0000657 AC: 2 AN: 30456 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.00

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00183

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.0000656 AC: 2 AN: 30468 Hom.: 0 Cov.: 0 AF XY: 0.0000670 AC XY: 1 AN XY: 14918

African (AFR) AF: 0.00 AC: 0 AN: 12632

American (AMR) AF: 0.00 AC: 0 AN: 2072

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 462

East Asian (EAS) AF: 0.00184 AC: 2 AN: 1088

South Asian (SAS) AF: 0.00 AC: 0 AN: 1014

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 2522

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 34

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 10194

Other (OTH) AF: 0.00 AC: 0 AN: 362

Alfa AF: 0.00 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.061

Splicing

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

Other links and lift over

dbSNP: rs3057847; hg19: chr1-9439844;