rs3057847

Variant names:

• chr1-9379785-AAAG-A
• rs3057847

Your query was ambiguous. Multiple possible variants found:

• chr1-9379785-AAAG-A
• chr1-9379785-AAAG-AAAGAAG

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BS2

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

• Frequency: Genomes: 𝑓 0.0019 (2 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0640
• Publications: 1 publications found

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

• BS2: High Homozygotes in GnomAd4 at 2 gene

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: 0.00194 AC: 59 AN: 30450 Hom.: 2 Cov.: 0

Gnomad AFR AF: 0.00452

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.000917

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000981

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.00194 AC: 59 AN: 30462 Hom.: 2 Cov.: 0 AF XY: 0.00188 AC XY: 28 AN XY: 14914

African (AFR) AF: 0.00451 AC: 57 AN: 12626

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

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

East Asian (EAS) AF: 0.000919 AC: 1 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: 0.0000981 AC: 1 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 v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.064

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;