rs1610940

Variant names:

• chr5-72533832-ATGTT-A
• rs1610940

Your query was ambiguous. Multiple possible variants found:

• 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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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;