rs35667964

Variant names:

• chr2-83851560-AG-A
• rs35667964

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 0.75 (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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;