18-35734460-C-T

Variant names:

• chr18-35734460-C-T
• rs7241635

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 0.452 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
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.304 AC: 12604 AN: 41414

American (AMR) AF: 0.566 AC: 8649 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.638 AC: 2215 AN: 3472

East Asian (EAS) AF: 0.554 AC: 2855 AN: 5156

South Asian (SAS) AF: 0.425 AC: 2044 AN: 4812

European-Finnish (FIN) AF: 0.485 AC: 5100 AN: 10526

Middle Eastern (MID) AF: 0.579 AC: 169 AN: 292

European-Non Finnish (NFE) AF: 0.496 AC: 33693 AN: 67956

Other (OTH) AF: 0.483 AC: 1020 AN: 2112

Alfa AF: 0.494 Hom.: 27615

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
PhyloP100		-0.21

Splicing

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

Other links and lift over

dbSNP: rs7241635; hg19: chr18-33314424;