16-68736795-GAAA-GAAAA

Variant names:

• chr16-68736795-G-GA
• rs34561447

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.478 AC: 19525 AN: 40866

American (AMR) AF: 0.765 AC: 11573 AN: 15126

Ashkenazi Jewish (ASJ) AF: 0.911 AC: 3140 AN: 3446

East Asian (EAS) AF: 0.770 AC: 3891 AN: 5056

South Asian (SAS) AF: 0.775 AC: 3639 AN: 4694

European-Finnish (FIN) AF: 0.814 AC: 8343 AN: 10254

Middle Eastern (MID) AF: 0.799 AC: 235 AN: 294

European-Non Finnish (NFE) AF: 0.869 AC: 58696 AN: 67550

Other (OTH) AF: 0.766 AC: 1598 AN: 2086

Alfa AF: 0.758 Hom.: 1595

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.75

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs34561447; hg19: chr16-68770698;