rs10534024

Positions:

• chr17-43760137-GTCC-G

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 0.59 (26979 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.407

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.646 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.592 AC: 89625 AN: 151516 Hom.: 26958 Cov.: 0

Gnomad AFR AF: 0.511

Gnomad AMI AF: 0.579

Gnomad AMR AF: 0.554

Gnomad ASJ AF: 0.622

Gnomad EAS AF: 0.343

Gnomad SAS AF: 0.663

Gnomad FIN AF: 0.747

Gnomad MID AF: 0.571

Gnomad NFE AF: 0.638

Gnomad OTH AF: 0.572

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

GnomAD4 genome AF: 0.592 AC: 89693 AN: 151634 Hom.: 26979 Cov.: 0 AF XY: 0.596 AC XY: 44120 AN XY: 74054

Gnomad4 AFR AF: 0.511

Gnomad4 AMR AF: 0.554

Gnomad4 ASJ AF: 0.622

Gnomad4 EAS AF: 0.342

Gnomad4 SAS AF: 0.665

Gnomad4 FIN AF: 0.747

Gnomad4 NFE AF: 0.638

Gnomad4 OTH AF: 0.575

Alfa AF: 0.625 Hom.: 3612

Bravo AF: 0.570

Asia WGS AF: 0.510 AC: 1775 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: rs10534024; hg19: chr17-41837505;