chr19-39245644-CATAT-C

Variant names:

• chr19-39245644-CATAT-C
• rs67461793

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 0.035 (247 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.240
• Publications: 1 publications found

ACMG classification

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

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.108 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: 0.0351 AC: 4818 AN: 137414 Hom.: 247 Cov.: 0

Gnomad AFR AF: 0.111

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0153

Gnomad ASJ AF: 0.00150

Gnomad EAS AF: 0.00241

Gnomad SAS AF: 0.000969

Gnomad FIN AF: 0.0112

Gnomad MID AF: 0.0101

Gnomad NFE AF: 0.00500

Gnomad OTH AF: 0.0274

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

GnomAD4 genome AF: 0.0351 AC: 4830 AN: 137468 Hom.: 247 Cov.: 0 AF XY: 0.0349 AC XY: 2302 AN XY: 65946

African (AFR) AF: 0.111 AC: 4143 AN: 37240

American (AMR) AF: 0.0153 AC: 204 AN: 13322

Ashkenazi Jewish (ASJ) AF: 0.00150 AC: 5 AN: 3344

East Asian (EAS) AF: 0.00264 AC: 12 AN: 4554

South Asian (SAS) AF: 0.000973 AC: 4 AN: 4110

European-Finnish (FIN) AF: 0.0112 AC: 85 AN: 7614

Middle Eastern (MID) AF: 0.0111 AC: 3 AN: 270

European-Non Finnish (NFE) AF: 0.00500 AC: 321 AN: 64248

Other (OTH) AF: 0.0278 AC: 53 AN: 1908

Alfa AF: 0.0107 Hom.: 677

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.24

Splicing

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

Other links and lift over

dbSNP: rs67461793; hg19: chr19-39736284;