rs2219968

chr8-78044423-G-Achr8-78044423-G-C

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 0.349 in 151,652 control chromosomes in the GnomAD database, including 9,952 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 0.35 (9952 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0520

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 (SAS) allele frequency at 95% confidence interval = 0.507 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: 0.349 AC: 52861 AN: 151536 Hom.: 9944 Cov.: 32

Gnomad AFR AF: 0.216

Gnomad AMI AF: 0.515

Gnomad AMR AF: 0.386

Gnomad ASJ AF: 0.455

Gnomad EAS AF: 0.499

Gnomad SAS AF: 0.526

Gnomad FIN AF: 0.371

Gnomad MID AF: 0.427

Gnomad NFE AF: 0.385

Gnomad OTH AF: 0.363

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

GnomAD4 genome AF: 0.349 AC: 52895 AN: 151652 Hom.: 9952 Cov.: 32 AF XY: 0.350 AC XY: 25941 AN XY: 74088

Gnomad4 AFR AF: 0.217

Gnomad4 AMR AF: 0.386

Gnomad4 ASJ AF: 0.455

Gnomad4 EAS AF: 0.498

Gnomad4 SAS AF: 0.524

Gnomad4 FIN AF: 0.371

Gnomad4 NFE AF: 0.385

Gnomad4 OTH AF: 0.365

Alfa AF: 0.389 Hom.: 11987

Bravo AF: 0.345

Asia WGS AF: 0.508 AC: 1763 AN: 3466

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
Cadd	Benign	4.7
Dann	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2219968; hg19: chr8-78956658;