11-33256373-CAGAA-CAGAAAGAA

Variant names:

• chr11-33256373-C-CAGAA
• rs2307955

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 0.70 (37577 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.157

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.714 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: 0.703 AC: 106527 AN: 151468 Hom.: 37535 Cov.: 0

Gnomad AFR AF: 0.712

Gnomad AMI AF: 0.576

Gnomad AMR AF: 0.685

Gnomad ASJ AF: 0.671

Gnomad EAS AF: 0.596

Gnomad SAS AF: 0.640

Gnomad FIN AF: 0.697

Gnomad MID AF: 0.717

Gnomad NFE AF: 0.719

Gnomad OTH AF: 0.709

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

GnomAD4 genome AF: 0.703 AC: 106630 AN: 151586 Hom.: 37577 Cov.: 0 AF XY: 0.701 AC XY: 51922 AN XY: 74042

Gnomad4 AFR AF: 0.712

Gnomad4 AMR AF: 0.685

Gnomad4 ASJ AF: 0.671

Gnomad4 EAS AF: 0.596

Gnomad4 SAS AF: 0.641

Gnomad4 FIN AF: 0.697

Gnomad4 NFE AF: 0.719

Gnomad4 OTH AF: 0.713

Alfa AF: 0.724 Hom.: 4271

Asia WGS AF: 0.659 AC: 2294 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: rs2307955; hg19: chr11-33277919;