11-69639561-ACC-AC

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 0.57 (22287 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.952

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.819 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: 0.567 AC: 79801 AN: 140620 Hom.: 22254 Cov.: 0

Gnomad AFR AF: 0.615

Gnomad AMI AF: 0.464

Gnomad AMR AF: 0.541

Gnomad ASJ AF: 0.578

Gnomad EAS AF: 0.841

Gnomad SAS AF: 0.714

Gnomad FIN AF: 0.513

Gnomad MID AF: 0.577

Gnomad NFE AF: 0.523

Gnomad OTH AF: 0.601

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

GnomAD4 genome AF: 0.568 AC: 79867 AN: 140702 Hom.: 22287 Cov.: 0 AF XY: 0.576 AC XY: 39056 AN XY: 67794

Gnomad4 AFR AF: 0.615

Gnomad4 AMR AF: 0.540

Gnomad4 ASJ AF: 0.578

Gnomad4 EAS AF: 0.841

Gnomad4 SAS AF: 0.715

Gnomad4 FIN AF: 0.513

Gnomad4 NFE AF: 0.523

Gnomad4 OTH AF: 0.605

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: rs36225395; hg19: chr11-69454329;