rs7233747

Variant names:

• chr18-78096894-T-C
• rs7233747

Your query was ambiguous. Multiple possible variants found:

• chr18-78096894-T-C
• chr18-78096894-T-G

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 0.631 in 152,108 control chromosomes in the GnomAD database, including 31,369 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 0.63 (31369 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.698
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.815 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: 0.630 AC: 95809 AN: 151990 Hom.: 31298 Cov.: 33

Gnomad AFR AF: 0.822

Gnomad AMI AF: 0.443

Gnomad AMR AF: 0.528

Gnomad ASJ AF: 0.616

Gnomad EAS AF: 0.557

Gnomad SAS AF: 0.685

Gnomad FIN AF: 0.634

Gnomad MID AF: 0.636

Gnomad NFE AF: 0.541

Gnomad OTH AF: 0.616

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

GnomAD4 genome AF: 0.631 AC: 95936 AN: 152108 Hom.: 31369 Cov.: 33 AF XY: 0.634 AC XY: 47155 AN XY: 74342

African (AFR) AF: 0.822 AC: 34150 AN: 41524

American (AMR) AF: 0.528 AC: 8079 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.616 AC: 2135 AN: 3468

East Asian (EAS) AF: 0.557 AC: 2879 AN: 5166

South Asian (SAS) AF: 0.687 AC: 3314 AN: 4826

European-Finnish (FIN) AF: 0.634 AC: 6690 AN: 10548

Middle Eastern (MID) AF: 0.646 AC: 190 AN: 294

European-Non Finnish (NFE) AF: 0.541 AC: 36803 AN: 67972

Other (OTH) AF: 0.612 AC: 1293 AN: 2112

Alfa AF: 0.603 Hom.: 4582

Bravo AF: 0.627

Asia WGS AF: 0.620 AC: 2154 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.3
DANN	Benign	0.35
PhyloP100		-0.70

Splicing

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

Other links and lift over

dbSNP: rs7233747; hg19: chr18-75856894;