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

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.606 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: 0.544 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

Gnomad4 AFR AF: 0.593

Gnomad4 AMR AF: 0.510

Gnomad4 ASJ AF: 0.469

Gnomad4 EAS AF: 0.429

Gnomad4 SAS AF: 0.625

Gnomad4 FIN AF: 0.563

Gnomad4 NFE AF: 0.526

Gnomad4 OTH AF: 0.526

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 v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17078770; hg19: chr6-132893723;