rs2219968

Variant names:

• chr8-78044423-G-A
• rs2219968

Your query was ambiguous. Multiple possible variants found:

• chr8-78044423-G-A
• chr8-78044423-G-C

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 12 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.217 AC: 8989 AN: 41450

American (AMR) AF: 0.386 AC: 5865 AN: 15198

Ashkenazi Jewish (ASJ) AF: 0.455 AC: 1578 AN: 3468

East Asian (EAS) AF: 0.498 AC: 2561 AN: 5138

South Asian (SAS) AF: 0.524 AC: 2524 AN: 4816

European-Finnish (FIN) AF: 0.371 AC: 3904 AN: 10522

Middle Eastern (MID) AF: 0.439 AC: 129 AN: 294

European-Non Finnish (NFE) AF: 0.385 AC: 26107 AN: 67748

Other (OTH) AF: 0.365 AC: 768 AN: 2106

Alfa AF: 0.380 Hom.: 32780

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
PhyloP100		-0.052

Splicing

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

Other links and lift over

dbSNP: rs2219968; hg19: chr8-78956658;