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. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.47 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.448 AC: 18548 AN: 41370

American (AMR) AF: 0.279 AC: 4257 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.322 AC: 1117 AN: 3466

East Asian (EAS) AF: 0.485 AC: 2501 AN: 5152

South Asian (SAS) AF: 0.371 AC: 1787 AN: 4818

European-Finnish (FIN) AF: 0.195 AC: 2064 AN: 10578

Middle Eastern (MID) AF: 0.384 AC: 113 AN: 294

European-Non Finnish (NFE) AF: 0.239 AC: 16222 AN: 67934

Other (OTH) AF: 0.329 AC: 694 AN: 2108

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 v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.34

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs1610940;

hg19: chr5-71829659;