19-39245644-CATATATATATATATATAT-CATATATATATATATATATATATATAT

Position:

• chr19-39245644-CATATATATATATATATAT-CATATATATATATATATATATATATAT

Variant summary

Our verdict is Likely benign. Variant got -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

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BS2: High Homozygotes in GnomAd4 at 2 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

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

Gnomad4 AFR AF: 0.00564

Gnomad4 AMR AF: 0.00120

Gnomad4 ASJ AF: 0.00149

Gnomad4 EAS AF: 0.00701

Gnomad4 SAS AF: 0.00340

Gnomad4 FIN AF: 0.00131

Gnomad4 NFE AF: 0.00264

Gnomad4 OTH AF: 0.00157

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs67461793; hg19: chr19-39736284;