18-35734460-C-T

Variant names:

• chr18-35734460-C-T
• rs7241635

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 0.452 in 151,928 control chromosomes in the GnomAD database, including 16,353 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 0.45 (16353 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.207

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.556 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: 0.452 AC: 68647 AN: 151810 Hom.: 16347 Cov.: 32

Gnomad AFR AF: 0.304

Gnomad AMI AF: 0.375

Gnomad AMR AF: 0.566

Gnomad ASJ AF: 0.638

Gnomad EAS AF: 0.554

Gnomad SAS AF: 0.424

Gnomad FIN AF: 0.485

Gnomad MID AF: 0.583

Gnomad NFE AF: 0.496

Gnomad OTH AF: 0.484

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

GnomAD4 genome AF: 0.452 AC: 68690 AN: 151928 Hom.: 16353 Cov.: 32 AF XY: 0.456 AC XY: 33819 AN XY: 74242

Gnomad4 AFR AF: 0.304

Gnomad4 AMR AF: 0.566

Gnomad4 ASJ AF: 0.638

Gnomad4 EAS AF: 0.554

Gnomad4 SAS AF: 0.425

Gnomad4 FIN AF: 0.485

Gnomad4 NFE AF: 0.496

Gnomad4 OTH AF: 0.483

Alfa AF: 0.502 Hom.: 19424

Bravo AF: 0.456

Asia WGS AF: 0.450 AC: 1562 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	1.5
DANN	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7241635; hg19: chr18-33314424;