chr18-76731670-A-C

Variant names:

• chr18-76731670-A-C
• rs7240748

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 0.521 in 151,982 control chromosomes in the GnomAD database, including 20,780 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 0.52 (20780 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.189
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.559 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.521 AC: 79183 AN: 151864 Hom.: 20774 Cov.: 31

Gnomad AFR AF: 0.474

Gnomad AMI AF: 0.433

Gnomad AMR AF: 0.502

Gnomad ASJ AF: 0.563

Gnomad EAS AF: 0.417

Gnomad SAS AF: 0.396

Gnomad FIN AF: 0.569

Gnomad MID AF: 0.475

Gnomad NFE AF: 0.564

Gnomad OTH AF: 0.501

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

GnomAD4 genome AF: 0.521 AC: 79207 AN: 151982 Hom.: 20780 Cov.: 31 AF XY: 0.518 AC XY: 38485 AN XY: 74294

African (AFR) AF: 0.474 AC: 19651 AN: 41448

American (AMR) AF: 0.502 AC: 7658 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.563 AC: 1952 AN: 3470

East Asian (EAS) AF: 0.416 AC: 2150 AN: 5172

South Asian (SAS) AF: 0.396 AC: 1905 AN: 4816

European-Finnish (FIN) AF: 0.569 AC: 5994 AN: 10542

Middle Eastern (MID) AF: 0.483 AC: 142 AN: 294

European-Non Finnish (NFE) AF: 0.564 AC: 38314 AN: 67946

Other (OTH) AF: 0.495 AC: 1046 AN: 2112

Alfa AF: 0.539 Hom.: 25826

Bravo AF: 0.519

Asia WGS AF: 0.377 AC: 1310 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	4.6
DANN	Benign	0.20
PhyloP100		0.19

Splicing

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

Other links and lift over

dbSNP: rs7240748; hg19: chr18-74443626;