rs7730843

chr5-36542210-G-A

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 0.283 in 152,092 control chromosomes in the GnomAD database, including 8,310 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 0.28 (8310 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.246

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.553 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.283 AC: 42981 AN: 151974 Hom.: 8273 Cov.: 32

Gnomad AFR AF: 0.558

Gnomad AMI AF: 0.0648

Gnomad AMR AF: 0.203

Gnomad ASJ AF: 0.159

Gnomad EAS AF: 0.0687

Gnomad SAS AF: 0.166

Gnomad FIN AF: 0.220

Gnomad MID AF: 0.196

Gnomad NFE AF: 0.179

Gnomad OTH AF: 0.245

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

GnomAD4 genome AF: 0.283 AC: 43082 AN: 152092 Hom.: 8310 Cov.: 32 AF XY: 0.282 AC XY: 20961 AN XY: 74346

Gnomad4 AFR AF: 0.559

Gnomad4 AMR AF: 0.203

Gnomad4 ASJ AF: 0.159

Gnomad4 EAS AF: 0.0687

Gnomad4 SAS AF: 0.167

Gnomad4 FIN AF: 0.220

Gnomad4 NFE AF: 0.179

Gnomad4 OTH AF: 0.245

Alfa AF: 0.202 Hom.: 1998

Bravo AF: 0.292

Asia WGS AF: 0.155 AC: 539 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	0.87
Dann	Benign	0.17

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7730843; hg19: chr5-36542312;