chr19-39245644-CATATAT-C

Variant names:

• chr19-39245644-CATATAT-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 0.081 (495 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 (NFE) allele frequency at 95% confidence interval = 0.0937 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: 0.0814 AC: 11197 AN: 137546 Hom.: 495 Cov.: 0

Gnomad AFR AF: 0.0601

Gnomad AMI AF: 0.142

Gnomad AMR AF: 0.0684

Gnomad ASJ AF: 0.178

Gnomad EAS AF: 0.00547

Gnomad SAS AF: 0.0590

Gnomad FIN AF: 0.0940

Gnomad MID AF: 0.115

Gnomad NFE AF: 0.0957

Gnomad OTH AF: 0.0839

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

GnomAD4 genome AF: 0.0814 AC: 11205 AN: 137594 Hom.: 495 Cov.: 0 AF XY: 0.0812 AC XY: 5363 AN XY: 66016

African (AFR) AF: 0.0603 AC: 2246 AN: 37272

American (AMR) AF: 0.0683 AC: 911 AN: 13344

Ashkenazi Jewish (ASJ) AF: 0.178 AC: 595 AN: 3346

East Asian (EAS) AF: 0.00548 AC: 25 AN: 4558

South Asian (SAS) AF: 0.0596 AC: 245 AN: 4114

European-Finnish (FIN) AF: 0.0940 AC: 719 AN: 7646

Middle Eastern (MID) AF: 0.115 AC: 31 AN: 270

European-Non Finnish (NFE) AF: 0.0957 AC: 6152 AN: 64278

Other (OTH) AF: 0.0834 AC: 159 AN: 1906

Alfa AF: 0.0888 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;