rs35280644

chr19-4886376-A-AT

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The variant allele was found at a frequency of 0.356 in 151,728 control chromosomes in the GnomAD database, including 11,136 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.36 (11136 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.162

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.523 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.356 AC: 53913 AN: 151610 Hom.: 11123 Cov.: 0

Gnomad AFR AF: 0.115

Gnomad AMI AF: 0.333

Gnomad AMR AF: 0.373

Gnomad ASJ AF: 0.383

Gnomad EAS AF: 0.539

Gnomad SAS AF: 0.452

Gnomad FIN AF: 0.554

Gnomad MID AF: 0.304

Gnomad NFE AF: 0.447

Gnomad OTH AF: 0.341

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

GnomAD4 genome AF: 0.356 AC: 53943 AN: 151728 Hom.: 11136 Cov.: 0 AF XY: 0.361 AC XY: 26772 AN XY: 74122

Gnomad4 AFR AF: 0.114

Gnomad4 AMR AF: 0.373

Gnomad4 ASJ AF: 0.383

Gnomad4 EAS AF: 0.540

Gnomad4 SAS AF: 0.453

Gnomad4 FIN AF: 0.554

Gnomad4 NFE AF: 0.447

Gnomad4 OTH AF: 0.347

Alfa AF: 0.391 Hom.: 1510

Asia WGS AF: 0.507 AC: 1759 AN: 3472

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: rs35280644; hg19: chr19-4886388;