chr16-31097966-G-GTCATCCA

Variant names:

• chr16-31097966-G-GTCATCCA
• rs59502288

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 0.39 (12086 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.228

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.689 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: 0.392 AC: 59373 AN: 151554 Hom.: 12054 Cov.: 0

Gnomad AFR AF: 0.421

Gnomad AMI AF: 0.323

Gnomad AMR AF: 0.394

Gnomad ASJ AF: 0.299

Gnomad EAS AF: 0.107

Gnomad SAS AF: 0.710

Gnomad FIN AF: 0.379

Gnomad MID AF: 0.245

Gnomad NFE AF: 0.382

Gnomad OTH AF: 0.358

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

GnomAD4 genome AF: 0.392 AC: 59455 AN: 151672 Hom.: 12086 Cov.: 0 AF XY: 0.396 AC XY: 29366 AN XY: 74118

Gnomad4 AFR AF: 0.422

Gnomad4 AMR AF: 0.394

Gnomad4 ASJ AF: 0.299

Gnomad4 EAS AF: 0.106

Gnomad4 SAS AF: 0.708

Gnomad4 FIN AF: 0.379

Gnomad4 NFE AF: 0.382

Gnomad4 OTH AF: 0.362

Alfa AF: 0.207 Hom.: 358

Asia WGS AF: 0.455 AC: 1578 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: rs59502288; hg19: chr16-31109287;