rs7329434

Variant names:

• chr13-70736875-C-T
• rs7329434

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 0.332 in 152,046 control chromosomes in the GnomAD database, including 8,814 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 0.33 (8814 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.33

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.357 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: 0.332 AC: 50473 AN: 151926 Hom.: 8807 Cov.: 33

Gnomad AFR AF: 0.347

Gnomad AMI AF: 0.207

Gnomad AMR AF: 0.246

Gnomad ASJ AF: 0.429

Gnomad EAS AF: 0.0605

Gnomad SAS AF: 0.221

Gnomad FIN AF: 0.379

Gnomad MID AF: 0.401

Gnomad NFE AF: 0.361

Gnomad OTH AF: 0.323

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

GnomAD4 genome AF: 0.332 AC: 50506 AN: 152046 Hom.: 8814 Cov.: 33 AF XY: 0.330 AC XY: 24496 AN XY: 74340

Gnomad4 AFR AF: 0.346

Gnomad4 AMR AF: 0.246

Gnomad4 ASJ AF: 0.429

Gnomad4 EAS AF: 0.0602

Gnomad4 SAS AF: 0.222

Gnomad4 FIN AF: 0.379

Gnomad4 NFE AF: 0.361

Gnomad4 OTH AF: 0.327

Alfa AF: 0.352 Hom.: 16326

Bravo AF: 0.321

Asia WGS AF: 0.189 AC: 656 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.3
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7329434; hg19: chr13-71311007;