rs1610940

Positions:

• chr5-72533832-ATGTT-A
• chr5-72533832-ATGTT-ATGTTTGTT

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 (8149 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.340

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.47 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: 0.313 AC: 47504 AN: 151792 Hom.: 8136 Cov.: 0

Gnomad AFR AF: 0.448

Gnomad AMI AF: 0.295

Gnomad AMR AF: 0.279

Gnomad ASJ AF: 0.322

Gnomad EAS AF: 0.486

Gnomad SAS AF: 0.370

Gnomad FIN AF: 0.195

Gnomad MID AF: 0.364

Gnomad NFE AF: 0.239

Gnomad OTH AF: 0.328

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

GnomAD4 genome AF: 0.313 AC: 47571 AN: 151910 Hom.: 8149 Cov.: 0 AF XY: 0.312 AC XY: 23186 AN XY: 74252

Gnomad4 AFR AF: 0.448

Gnomad4 AMR AF: 0.279

Gnomad4 ASJ AF: 0.322

Gnomad4 EAS AF: 0.485

Gnomad4 SAS AF: 0.371

Gnomad4 FIN AF: 0.195

Gnomad4 NFE AF: 0.239

Gnomad4 OTH AF: 0.329

Alfa AF: 0.271 Hom.: 751

Bravo AF: 0.324

Asia WGS AF: 0.469 AC: 1627 AN: 3474

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: rs1610940; hg19: chr5-71829659;