6-170410926-TAAATGGC-T

Position:

• chr6-170410926-TAAATGGC-T

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 0.81 (51690 hom., cov: 0)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.252

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.91 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.170410927_170410933delAAATGGC		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.813 AC: 123207 AN: 151582 Hom.: 51650 Cov.: 0

Gnomad AFR AF: 0.918

Gnomad AMI AF: 0.838

Gnomad AMR AF: 0.776

Gnomad ASJ AF: 0.815

Gnomad EAS AF: 0.121

Gnomad SAS AF: 0.651

Gnomad FIN AF: 0.823

Gnomad MID AF: 0.815

Gnomad NFE AF: 0.820

Gnomad OTH AF: 0.798

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

GnomAD4 genome AF: 0.813 AC: 123302 AN: 151698 Hom.: 51690 Cov.: 0 AF XY: 0.806 AC XY: 59778 AN XY: 74126

Gnomad4 AFR AF: 0.918

Gnomad4 AMR AF: 0.775

Gnomad4 ASJ AF: 0.815

Gnomad4 EAS AF: 0.121

Gnomad4 SAS AF: 0.652

Gnomad4 FIN AF: 0.823

Gnomad4 NFE AF: 0.820

Gnomad4 OTH AF: 0.796

Alfa AF: 0.828 Hom.: 5633

Bravo AF: 0.810

Asia WGS AF: 0.434 AC: 1513 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: rs140708; hg19: chr6-170720014;