chr18-76736773-C-T

Variant names:

• chr18-76736773-C-T
• rs4891196

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 0.796 in 152,162 control chromosomes in the GnomAD database, including 48,325 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 0.80 (48325 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.812

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.803 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: 0.796 AC: 121049 AN: 152044 Hom.: 48282 Cov.: 32

Gnomad AFR AF: 0.794

Gnomad AMI AF: 0.783

Gnomad AMR AF: 0.755

Gnomad ASJ AF: 0.817

Gnomad EAS AF: 0.771

Gnomad SAS AF: 0.679

Gnomad FIN AF: 0.841

Gnomad MID AF: 0.816

Gnomad NFE AF: 0.809

Gnomad OTH AF: 0.807

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

GnomAD4 genome AF: 0.796 AC: 121153 AN: 152162 Hom.: 48325 Cov.: 32 AF XY: 0.796 AC XY: 59244 AN XY: 74404

Gnomad4 AFR AF: 0.794

Gnomad4 AMR AF: 0.755

Gnomad4 ASJ AF: 0.817

Gnomad4 EAS AF: 0.770

Gnomad4 SAS AF: 0.678

Gnomad4 FIN AF: 0.841

Gnomad4 NFE AF: 0.809

Gnomad4 OTH AF: 0.806

Alfa AF: 0.803 Hom.: 72180

Bravo AF: 0.794

Asia WGS AF: 0.700 AC: 2437 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	0.030
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4891196; hg19: chr18-74448729;