chr8-21366663-C-T

Variant names:

• chr8-21366663-C-T
• rs4739199

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 0.505 in 151,956 control chromosomes in the GnomAD database, including 19,988 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 0.51 (19988 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.00

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.537 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: 0.505 AC: 76716 AN: 151840 Hom.: 19983 Cov.: 32

Gnomad AFR AF: 0.544

Gnomad AMI AF: 0.503

Gnomad AMR AF: 0.365

Gnomad ASJ AF: 0.558

Gnomad EAS AF: 0.204

Gnomad SAS AF: 0.385

Gnomad FIN AF: 0.516

Gnomad MID AF: 0.509

Gnomad NFE AF: 0.540

Gnomad OTH AF: 0.499

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

GnomAD4 genome AF: 0.505 AC: 76748 AN: 151956 Hom.: 19988 Cov.: 32 AF XY: 0.496 AC XY: 36871 AN XY: 74266

Gnomad4 AFR AF: 0.543

Gnomad4 AMR AF: 0.364

Gnomad4 ASJ AF: 0.558

Gnomad4 EAS AF: 0.203

Gnomad4 SAS AF: 0.386

Gnomad4 FIN AF: 0.516

Gnomad4 NFE AF: 0.540

Gnomad4 OTH AF: 0.498

Alfa AF: 0.523 Hom.: 27750

Bravo AF: 0.492

Asia WGS AF: 0.305 AC: 1062 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	0.65
DANN	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4739199; hg19: chr8-21224174;