rs73034881

chr7-4383169-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 0.117 in 152,082 control chromosomes in the GnomAD database, including 1,052 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 (1052 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0570

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.125 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: 0.117 AC: 17736 AN: 151964 Hom.: 1046 Cov.: 32

Gnomad AFR AF: 0.117

Gnomad AMI AF: 0.0736

Gnomad AMR AF: 0.0990

Gnomad ASJ AF: 0.132

Gnomad EAS AF: 0.0886

Gnomad SAS AF: 0.0543

Gnomad FIN AF: 0.115

Gnomad MID AF: 0.149

Gnomad NFE AF: 0.127

Gnomad OTH AF: 0.121

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

GnomAD4 genome AF: 0.117 AC: 17766 AN: 152082 Hom.: 1052 Cov.: 32 AF XY: 0.116 AC XY: 8591 AN XY: 74344

Gnomad4 AFR AF: 0.118

Gnomad4 AMR AF: 0.0989

Gnomad4 ASJ AF: 0.132

Gnomad4 EAS AF: 0.0884

Gnomad4 SAS AF: 0.0539

Gnomad4 FIN AF: 0.115

Gnomad4 NFE AF: 0.127

Gnomad4 OTH AF: 0.122

Alfa AF: 0.118 Hom.: 198

Bravo AF: 0.117

Asia WGS AF: 0.0750 AC: 260 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
Cadd	Benign	0.36
Dann	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs73034881; hg19: chr7-4422800;