rs7704530

Variant names:

• chr5-30845358-G-A
• rs7704530

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 0.753 in 151,828 control chromosomes in the GnomAD database, including 43,524 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 0.75 (43524 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0400

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.841 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: 0.753 AC: 114246 AN: 151710 Hom.: 43476 Cov.: 31

Gnomad AFR AF: 0.848

Gnomad AMI AF: 0.510

Gnomad AMR AF: 0.740

Gnomad ASJ AF: 0.757

Gnomad EAS AF: 0.546

Gnomad SAS AF: 0.749

Gnomad FIN AF: 0.702

Gnomad MID AF: 0.810

Gnomad NFE AF: 0.725

Gnomad OTH AF: 0.741

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

GnomAD4 genome AF: 0.753 AC: 114355 AN: 151828 Hom.: 43524 Cov.: 31 AF XY: 0.752 AC XY: 55807 AN XY: 74168

Gnomad4 AFR AF: 0.848

Gnomad4 AMR AF: 0.740

Gnomad4 ASJ AF: 0.757

Gnomad4 EAS AF: 0.546

Gnomad4 SAS AF: 0.748

Gnomad4 FIN AF: 0.702

Gnomad4 NFE AF: 0.725

Gnomad4 OTH AF: 0.742

Alfa AF: 0.733 Hom.: 21849

Bravo AF: 0.759

Asia WGS AF: 0.702 AC: 2439 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.5
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7704530; hg19: chr5-30845465;