rs7230711

Variant names:

• chr18-51164249-A-G
• rs7230711

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 0.116 in 152,262 control chromosomes in the GnomAD database, including 1,287 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 0.12 (1287 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.705
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.207 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: 0.115 AC: 17571 AN: 152144 Hom.: 1278 Cov.: 33

Gnomad AFR AF: 0.210

Gnomad AMI AF: 0.129

Gnomad AMR AF: 0.0756

Gnomad ASJ AF: 0.0674

Gnomad EAS AF: 0.0924

Gnomad SAS AF: 0.0820

Gnomad FIN AF: 0.0618

Gnomad MID AF: 0.0570

Gnomad NFE AF: 0.0821

Gnomad OTH AF: 0.107

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

GnomAD4 genome AF: 0.116 AC: 17628 AN: 152262 Hom.: 1287 Cov.: 33 AF XY: 0.113 AC XY: 8419 AN XY: 74448

African (AFR) AF: 0.211 AC: 8753 AN: 41530

American (AMR) AF: 0.0759 AC: 1161 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.0674 AC: 234 AN: 3472

East Asian (EAS) AF: 0.0926 AC: 480 AN: 5184

South Asian (SAS) AF: 0.0823 AC: 397 AN: 4826

European-Finnish (FIN) AF: 0.0618 AC: 656 AN: 10608

Middle Eastern (MID) AF: 0.0544 AC: 16 AN: 294

European-Non Finnish (NFE) AF: 0.0821 AC: 5585 AN: 68022

Other (OTH) AF: 0.108 AC: 228 AN: 2114

Alfa AF: 0.0932 Hom.: 1537

Bravo AF: 0.121

Asia WGS AF: 0.0820 AC: 287 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.41
DANN	Benign	0.57
PhyloP100		-0.70

Splicing

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

Other links and lift over

dbSNP: rs7230711; hg19: chr18-48690619;