16-68736795-GAAA-GAAAA

Variant names:

• chr16-68736795-G-GA
• rs34561447

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 0.74 (43457 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.752

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.863 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: 0.742 AC: 111447 AN: 150160 Hom.: 43458 Cov.: 0

Gnomad AFR AF: 0.478

Gnomad AMI AF: 0.922

Gnomad AMR AF: 0.765

Gnomad ASJ AF: 0.911

Gnomad EAS AF: 0.770

Gnomad SAS AF: 0.775

Gnomad FIN AF: 0.814

Gnomad MID AF: 0.804

Gnomad NFE AF: 0.869

Gnomad OTH AF: 0.769

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

GnomAD4 genome AF: 0.742 AC: 111472 AN: 150274 Hom.: 43457 Cov.: 0 AF XY: 0.740 AC XY: 54214 AN XY: 73268

Gnomad4 AFR AF: 0.478

Gnomad4 AMR AF: 0.765

Gnomad4 ASJ AF: 0.911

Gnomad4 EAS AF: 0.770

Gnomad4 SAS AF: 0.775

Gnomad4 FIN AF: 0.814

Gnomad4 NFE AF: 0.869

Gnomad4 OTH AF: 0.766

Alfa AF: 0.758 Hom.: 1595

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: rs34561447; hg19: chr16-68770698;