rs7336332

Variant names:

• chr13-27484267-A-G
• rs7336332

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 0.186 in 152,216 control chromosomes in the GnomAD database, including 3,069 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 0.19 (3069 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.263

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.281 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: 0.186 AC: 28282 AN: 152100 Hom.: 3061 Cov.: 33

Gnomad AFR AF: 0.285

Gnomad AMI AF: 0.128

Gnomad AMR AF: 0.149

Gnomad ASJ AF: 0.0824

Gnomad EAS AF: 0.205

Gnomad SAS AF: 0.0513

Gnomad FIN AF: 0.177

Gnomad MID AF: 0.0759

Gnomad NFE AF: 0.150

Gnomad OTH AF: 0.186

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

GnomAD4 genome AF: 0.186 AC: 28325 AN: 152216 Hom.: 3069 Cov.: 33 AF XY: 0.184 AC XY: 13680 AN XY: 74412

Gnomad4 AFR AF: 0.285

Gnomad4 AMR AF: 0.149

Gnomad4 ASJ AF: 0.0824

Gnomad4 EAS AF: 0.206

Gnomad4 SAS AF: 0.0514

Gnomad4 FIN AF: 0.177

Gnomad4 NFE AF: 0.150

Gnomad4 OTH AF: 0.185

Alfa AF: 0.152 Hom.: 2981

Bravo AF: 0.191

Asia WGS AF: 0.126 AC: 438 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	3.8
DANN	Benign	0.28

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7336332; hg19: chr13-28058404;