rs17078770

chr6-132572584-G-GAchr6-132572584-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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;