16-68736943-GA-G

Variant names:

• chr16-68736943-GA-G
• rs5030625

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 0.81 (50074 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.292
• Publications: 22 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.88 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.806 AC: 122384 AN: 151870 Hom.: 50068 Cov.: 0

Gnomad AFR AF: 0.664

Gnomad AMI AF: 0.924

Gnomad AMR AF: 0.800

Gnomad ASJ AF: 0.931

Gnomad EAS AF: 0.771

Gnomad SAS AF: 0.783

Gnomad FIN AF: 0.825

Gnomad MID AF: 0.848

Gnomad NFE AF: 0.886

Gnomad OTH AF: 0.831

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

GnomAD4 genome AF: 0.806 AC: 122428 AN: 151988 Hom.: 50074 Cov.: 0 AF XY: 0.801 AC XY: 59487 AN XY: 74308

African (AFR) AF: 0.663 AC: 27470 AN: 41418

American (AMR) AF: 0.800 AC: 12216 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.931 AC: 3227 AN: 3468

East Asian (EAS) AF: 0.771 AC: 3966 AN: 5142

South Asian (SAS) AF: 0.783 AC: 3765 AN: 4808

European-Finnish (FIN) AF: 0.825 AC: 8719 AN: 10574

Middle Eastern (MID) AF: 0.847 AC: 249 AN: 294

European-Non Finnish (NFE) AF: 0.886 AC: 60231 AN: 67992

Other (OTH) AF: 0.828 AC: 1742 AN: 2104

Alfa AF: 0.811 Hom.: 2512

Bravo AF: 0.797

Asia WGS AF: 0.774 AC: 2694 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.29

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs5030625; hg19: chr16-68770846; COSMIC: COSV55727819;