6-25708782-CTT-CTTT

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 0.82 (50143 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.377

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.915 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: 0.823 AC: 121606 AN: 147768 Hom.: 50129 Cov.: 0

Gnomad AFR AF: 0.760

Gnomad AMI AF: 0.963

Gnomad AMR AF: 0.855

Gnomad ASJ AF: 0.775

Gnomad EAS AF: 0.936

Gnomad SAS AF: 0.849

Gnomad FIN AF: 0.792

Gnomad MID AF: 0.747

Gnomad NFE AF: 0.849

Gnomad OTH AF: 0.798

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

GnomAD4 genome AF: 0.823 AC: 121651 AN: 147840 Hom.: 50143 Cov.: 0 AF XY: 0.821 AC XY: 58976 AN XY: 71834

Gnomad4 AFR AF: 0.760

Gnomad4 AMR AF: 0.855

Gnomad4 ASJ AF: 0.775

Gnomad4 EAS AF: 0.937

Gnomad4 SAS AF: 0.849

Gnomad4 FIN AF: 0.792

Gnomad4 NFE AF: 0.849

Gnomad4 OTH AF: 0.801

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: rs11441045; hg19: chr6-25709010;