rs17078770

Variant names:

• chr6-132572584-G-GA
• rs17078770

Your query was ambiguous. Multiple possible variants found:

• chr6-132572584-G-GA
• chr6-132572584-G-GAGGAATATTCTGCATAATATTCTTTATCGA

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 0.54 (22729 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.339
• Publications: 1 publications found

ACMG classification

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

• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.606 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: 0.544 AC: 82524 AN: 151684 Hom.: 22714 Cov.: 0

Gnomad AFR AF: 0.593

Gnomad AMI AF: 0.569

Gnomad AMR AF: 0.510

Gnomad ASJ AF: 0.469

Gnomad EAS AF: 0.429

Gnomad SAS AF: 0.625

Gnomad FIN AF: 0.563

Gnomad MID AF: 0.506

Gnomad NFE AF: 0.526

Gnomad OTH AF: 0.527

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

GnomAD4 genome AF: 0.544 AC: 82589 AN: 151804 Hom.: 22729 Cov.: 0 AF XY: 0.547 AC XY: 40605 AN XY: 74190

African (AFR) AF: 0.593 AC: 24522 AN: 41376

American (AMR) AF: 0.510 AC: 7777 AN: 15242

Ashkenazi Jewish (ASJ) AF: 0.469 AC: 1623 AN: 3464

East Asian (EAS) AF: 0.429 AC: 2216 AN: 5164

South Asian (SAS) AF: 0.625 AC: 3011 AN: 4820

European-Finnish (FIN) AF: 0.563 AC: 5922 AN: 10516

Middle Eastern (MID) AF: 0.517 AC: 152 AN: 294

European-Non Finnish (NFE) AF: 0.526 AC: 35743 AN: 67916

Other (OTH) AF: 0.526 AC: 1106 AN: 2104

Alfa AF: 0.526 Hom.: 2573

Bravo AF: 0.537

Asia WGS AF: 0.519 AC: 1805 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.34

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: rs17078770;

hg19: chr6-132893723;