11-69639561-ACC-AC

Variant names:

• chr11-69639561-AC-A
• rs36225395

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;