rs4646284

Variant names:

• chr6-160160511-T-TG
• rs4646284

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 0.31 (7469 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.882

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.366 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: 0.307 AC: 46659 AN: 151976 Hom.: 7448 Cov.: 0

Gnomad AFR AF: 0.371

Gnomad AMI AF: 0.399

Gnomad AMR AF: 0.263

Gnomad ASJ AF: 0.247

Gnomad EAS AF: 0.296

Gnomad SAS AF: 0.255

Gnomad FIN AF: 0.237

Gnomad MID AF: 0.168

Gnomad NFE AF: 0.297

Gnomad OTH AF: 0.281

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

GnomAD4 genome AF: 0.307 AC: 46728 AN: 152094 Hom.: 7469 Cov.: 0 AF XY: 0.300 AC XY: 22317 AN XY: 74338

Gnomad4 AFR AF: 0.371

Gnomad4 AMR AF: 0.264

Gnomad4 ASJ AF: 0.247

Gnomad4 EAS AF: 0.297

Gnomad4 SAS AF: 0.256

Gnomad4 FIN AF: 0.237

Gnomad4 NFE AF: 0.297

Gnomad4 OTH AF: 0.281

Alfa AF: 0.299 Hom.: 847

Bravo AF: 0.308

Asia WGS AF: 0.289 AC: 1009 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: rs4646284; hg19: chr6-160581543;