rs73034881

Variant names:

• chr7-4383169-G-A
• rs73034881

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;