chr19-3958399-A-G

Position:

• chr19-3958399-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.792 in 456,038 control chromosomes in the GnomAD database, including 143,812 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.79 (47440 hom., cov: 34)
  • Exomes 𝑓: 0.79 (96372 hom.)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.10

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.941 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.787 AC: 119760 AN: 152100 Hom.: 47399 Cov.: 34

Gnomad AFR AF: 0.749

Gnomad AMI AF: 0.783

Gnomad AMR AF: 0.856

Gnomad ASJ AF: 0.721

Gnomad EAS AF: 0.963

Gnomad SAS AF: 0.771

Gnomad FIN AF: 0.804

Gnomad MID AF: 0.715

Gnomad NFE AF: 0.785

Gnomad OTH AF: 0.781

GnomAD4 exome AF: 0.794 AC: 241171 AN: 303820 Hom.: 96372 AF XY: 0.791 AC XY: 136836 AN XY: 172998

Gnomad4 AFR exome AF: 0.742

Gnomad4 AMR exome AF: 0.890

Gnomad4 ASJ exome AF: 0.734

Gnomad4 EAS exome AF: 0.966

Gnomad4 SAS exome AF: 0.770

Gnomad4 FIN exome AF: 0.789

Gnomad4 NFE exome AF: 0.784

Gnomad4 OTH exome AF: 0.793

GnomAD4 genome AF: 0.787 AC: 119859 AN: 152218 Hom.: 47440 Cov.: 34 AF XY: 0.792 AC XY: 58935 AN XY: 74430

Gnomad4 AFR AF: 0.749

Gnomad4 AMR AF: 0.856

Gnomad4 ASJ AF: 0.721

Gnomad4 EAS AF: 0.963

Gnomad4 SAS AF: 0.770

Gnomad4 FIN AF: 0.804

Gnomad4 NFE AF: 0.785

Gnomad4 OTH AF: 0.782

Alfa AF: 0.782 Hom.: 58217

Bravo AF: 0.789

Asia WGS AF: 0.865 AC: 3005 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	2.9
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7255123; hg19: chr19-3958397;