19-39245644-CATATATATATATATATAT-CATATATATATATATAT

Variant names:

• chr19-39245644-CAT-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 0.44 (14054 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 (EAS) allele frequency at 95% confidence interval = 0.824 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: 0.436 AC: 59767 AN: 137180 Hom.: 14058 Cov.: 0

Gnomad AFR AF: 0.222

Gnomad AMI AF: 0.383

Gnomad AMR AF: 0.547

Gnomad ASJ AF: 0.434

Gnomad EAS AF: 0.846

Gnomad SAS AF: 0.509

Gnomad FIN AF: 0.530

Gnomad MID AF: 0.466

Gnomad NFE AF: 0.491

Gnomad OTH AF: 0.457

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

GnomAD4 genome AF: 0.435 AC: 59762 AN: 137230 Hom.: 14054 Cov.: 0 AF XY: 0.441 AC XY: 29062 AN XY: 65834

African (AFR) AF: 0.221 AC: 8217 AN: 37110

American (AMR) AF: 0.547 AC: 7276 AN: 13294

Ashkenazi Jewish (ASJ) AF: 0.434 AC: 1451 AN: 3342

East Asian (EAS) AF: 0.846 AC: 3860 AN: 4562

South Asian (SAS) AF: 0.508 AC: 2079 AN: 4092

European-Finnish (FIN) AF: 0.530 AC: 4037 AN: 7616

Middle Eastern (MID) AF: 0.463 AC: 124 AN: 268

European-Non Finnish (NFE) AF: 0.491 AC: 31520 AN: 64188

Other (OTH) AF: 0.457 AC: 871 AN: 1904

Alfa AF: 0.501 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;