rs35667964

chr2-83851560-AG-A

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The variant allele was found at a frequency of 0.753 in 151,928 control chromosomes in the GnomAD database, including 46,012 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.75 (46012 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.556

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.911 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: 0.754 AC: 114464 AN: 151810 Hom.: 46022 Cov.: 0

Gnomad AFR AF: 0.509

Gnomad AMI AF: 0.891

Gnomad AMR AF: 0.702

Gnomad ASJ AF: 0.938

Gnomad EAS AF: 0.387

Gnomad SAS AF: 0.666

Gnomad FIN AF: 0.876

Gnomad MID AF: 0.867

Gnomad NFE AF: 0.917

Gnomad OTH AF: 0.786

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

GnomAD4 genome AF: 0.753 AC: 114472 AN: 151928 Hom.: 46012 Cov.: 0 AF XY: 0.747 AC XY: 55483 AN XY: 74270

Gnomad4 AFR AF: 0.508

Gnomad4 AMR AF: 0.702

Gnomad4 ASJ AF: 0.938

Gnomad4 EAS AF: 0.387

Gnomad4 SAS AF: 0.666

Gnomad4 FIN AF: 0.876

Gnomad4 NFE AF: 0.917

Gnomad4 OTH AF: 0.782

Alfa AF: 0.741 Hom.: 1758

Asia WGS AF: 0.513 AC: 1788 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: rs35667964; hg19: chr2-84078684;