rs982723

Variant names:

• chr18-7547609-A-G
• rs982723

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 0.062 in 151,846 control chromosomes in the GnomAD database, including 410 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 0.062 (410 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.130

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.191 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: 0.0620 AC: 9405 AN: 151728 Hom.: 409 Cov.: 32

Gnomad AFR AF: 0.0941

Gnomad AMI AF: 0.00329

Gnomad AMR AF: 0.0418

Gnomad ASJ AF: 0.0589

Gnomad EAS AF: 0.0818

Gnomad SAS AF: 0.200

Gnomad FIN AF: 0.0378

Gnomad MID AF: 0.114

Gnomad NFE AF: 0.0401

Gnomad OTH AF: 0.0626

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

GnomAD4 genome AF: 0.0620 AC: 9414 AN: 151846 Hom.: 410 Cov.: 32 AF XY: 0.0648 AC XY: 4808 AN XY: 74222

Gnomad4 AFR AF: 0.0940

Gnomad4 AMR AF: 0.0417

Gnomad4 ASJ AF: 0.0589

Gnomad4 EAS AF: 0.0824

Gnomad4 SAS AF: 0.201

Gnomad4 FIN AF: 0.0378

Gnomad4 NFE AF: 0.0401

Gnomad4 OTH AF: 0.0620

Alfa AF: 0.0473 Hom.: 284

Bravo AF: 0.0597

Asia WGS AF: 0.141 AC: 491 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.36
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs982723; hg19: chr18-7547607;