rs7323018

Variant names:

• chr13-44040903-G-A
• rs7323018

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 0.586 in 152,068 control chromosomes in the GnomAD database, including 29,036 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 0.59 (29036 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.125

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.718 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: 0.586 AC: 89088 AN: 151950 Hom.: 29034 Cov.: 33

Gnomad AFR AF: 0.279

Gnomad AMI AF: 0.588

Gnomad AMR AF: 0.693

Gnomad ASJ AF: 0.557

Gnomad EAS AF: 0.682

Gnomad SAS AF: 0.517

Gnomad FIN AF: 0.743

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.723

Gnomad OTH AF: 0.615

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

GnomAD4 genome AF: 0.586 AC: 89110 AN: 152068 Hom.: 29036 Cov.: 33 AF XY: 0.585 AC XY: 43512 AN XY: 74332

Gnomad4 AFR AF: 0.279

Gnomad4 AMR AF: 0.693

Gnomad4 ASJ AF: 0.557

Gnomad4 EAS AF: 0.682

Gnomad4 SAS AF: 0.517

Gnomad4 FIN AF: 0.743

Gnomad4 NFE AF: 0.723

Gnomad4 OTH AF: 0.616

Alfa AF: 0.694 Hom.: 75019

Bravo AF: 0.575

Asia WGS AF: 0.593 AC: 2068 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	2.7
DANN	Benign	0.68

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7323018; hg19: chr13-44615039;