chr19-39245644-C-CATATATAT

Variant names:

• chr19-39245644-C-CATATATAT
• rs67461793

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BS2

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.0033 (2 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.240
• Publications: 1 publications found

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

• BS2: High Homozygotes in GnomAd4 at 2 gene

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: 0.00336 AC: 462 AN: 137564 Hom.: 2 Cov.: 0

Gnomad AFR AF: 0.00562

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00120

Gnomad ASJ AF: 0.00149

Gnomad EAS AF: 0.00721

Gnomad SAS AF: 0.00338

Gnomad FIN AF: 0.00131

Gnomad MID AF: 0.00676

Gnomad NFE AF: 0.00264

Gnomad OTH AF: 0.00158

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

GnomAD4 genome AF: 0.00335 AC: 461 AN: 137616 Hom.: 2 Cov.: 0 AF XY: 0.00306 AC XY: 202 AN XY: 66032

African (AFR) AF: 0.00564 AC: 210 AN: 37258

American (AMR) AF: 0.00120 AC: 16 AN: 13348

Ashkenazi Jewish (ASJ) AF: 0.00149 AC: 5 AN: 3346

East Asian (EAS) AF: 0.00701 AC: 32 AN: 4562

South Asian (SAS) AF: 0.00340 AC: 14 AN: 4116

European-Finnish (FIN) AF: 0.00131 AC: 10 AN: 7660

Middle Eastern (MID) AF: 0.00370 AC: 1 AN: 270

European-Non Finnish (NFE) AF: 0.00264 AC: 170 AN: 64288

Other (OTH) AF: 0.00157 AC: 3 AN: 1908

Alfa AF: 0.00 Hom.: 677

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.24

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: rs67461793; hg19: chr19-39736284;