chr8-18233891-T-C

Position:

• chr8-18233891-T-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 0.553 in 151,996 control chromosomes in the GnomAD database, including 23,336 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 0.55 (23336 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.928

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.571 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.553 AC: 84025 AN: 151878 Hom.: 23294 Cov.: 32

Gnomad AFR AF: 0.577

Gnomad AMI AF: 0.426

Gnomad AMR AF: 0.525

Gnomad ASJ AF: 0.588

Gnomad EAS AF: 0.496

Gnomad SAS AF: 0.527

Gnomad FIN AF: 0.493

Gnomad MID AF: 0.598

Gnomad NFE AF: 0.561

Gnomad OTH AF: 0.541

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

GnomAD4 genome AF: 0.553 AC: 84124 AN: 151996 Hom.: 23336 Cov.: 32 AF XY: 0.549 AC XY: 40766 AN XY: 74306

Gnomad4 AFR AF: 0.578

Gnomad4 AMR AF: 0.525

Gnomad4 ASJ AF: 0.588

Gnomad4 EAS AF: 0.496

Gnomad4 SAS AF: 0.529

Gnomad4 FIN AF: 0.493

Gnomad4 NFE AF: 0.561

Gnomad4 OTH AF: 0.544

Alfa AF: 0.556 Hom.: 2895

Bravo AF: 0.555

Asia WGS AF: 0.496 AC: 1725 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.95
DANN	Benign	0.77

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4921585; hg19: chr8-18091400;