8-18414928-C-T

Variant names:

• chr8-18414928-C-T
• rs4921914

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 0.709 in 152,006 control chromosomes in the GnomAD database, including 38,781 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 0.71 (38781 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.547
• Publications: 46 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.768 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: 0.709 AC: 107711 AN: 151888 Hom.: 38778 Cov.: 32

Gnomad AFR AF: 0.622

Gnomad AMI AF: 0.719

Gnomad AMR AF: 0.662

Gnomad ASJ AF: 0.832

Gnomad EAS AF: 0.462

Gnomad SAS AF: 0.775

Gnomad FIN AF: 0.746

Gnomad MID AF: 0.788

Gnomad NFE AF: 0.774

Gnomad OTH AF: 0.733

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

GnomAD4 genome AF: 0.709 AC: 107757 AN: 152006 Hom.: 38781 Cov.: 32 AF XY: 0.706 AC XY: 52459 AN XY: 74296

African (AFR) AF: 0.621 AC: 25734 AN: 41428

American (AMR) AF: 0.662 AC: 10118 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.832 AC: 2888 AN: 3472

East Asian (EAS) AF: 0.462 AC: 2378 AN: 5142

South Asian (SAS) AF: 0.774 AC: 3731 AN: 4822

European-Finnish (FIN) AF: 0.746 AC: 7873 AN: 10558

Middle Eastern (MID) AF: 0.793 AC: 233 AN: 294

European-Non Finnish (NFE) AF: 0.774 AC: 52609 AN: 67988

Other (OTH) AF: 0.730 AC: 1539 AN: 2108

Alfa AF: 0.744 Hom.: 164668

Bravo AF: 0.694

Asia WGS AF: 0.628 AC: 2182 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.76
DANN	Benign	0.41
PhyloP100		-0.55

Splicing

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

Other links and lift over

dbSNP: rs4921914; hg19: chr8-18272438;