rs7230711

Variant names:

• chr18-51164249-A-G
• rs7230711

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 0.116 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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.115 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

Gnomad4 AFR AF: 0.211

Gnomad4 AMR AF: 0.0759

Gnomad4 ASJ AF: 0.0674

Gnomad4 EAS AF: 0.0926

Gnomad4 SAS AF: 0.0823

Gnomad4 FIN AF: 0.0618

Gnomad4 NFE AF: 0.0821

Gnomad4 OTH AF: 0.108

Alfa AF: 0.0861 Hom.: 383

Bravo AF: 0.121

Asia WGS AF: 0.0820 AC: 287 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7230711; hg19: chr18-48690619;