rs7336380

Variant names:

• chr13-37613611-G-A
• rs7336380

Your query was ambiguous. Multiple possible variants found:

• chr13-37613611-G-A
• chr13-37613611-G-C

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 0.754 in 152,020 control chromosomes in the GnomAD database, including 43,905 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 0.75 (43905 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.539

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.8 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: 0.754 AC: 114583 AN: 151902 Hom.: 43877 Cov.: 32

Gnomad AFR AF: 0.728

Gnomad AMI AF: 0.867

Gnomad AMR AF: 0.729

Gnomad ASJ AF: 0.845

Gnomad EAS AF: 0.315

Gnomad SAS AF: 0.700

Gnomad FIN AF: 0.756

Gnomad MID AF: 0.826

Gnomad NFE AF: 0.806

Gnomad OTH AF: 0.774

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

GnomAD4 genome AF: 0.754 AC: 114663 AN: 152020 Hom.: 43905 Cov.: 32 AF XY: 0.746 AC XY: 55389 AN XY: 74286

Gnomad4 AFR AF: 0.728

Gnomad4 AMR AF: 0.728

Gnomad4 ASJ AF: 0.845

Gnomad4 EAS AF: 0.315

Gnomad4 SAS AF: 0.701

Gnomad4 FIN AF: 0.756

Gnomad4 NFE AF: 0.806

Gnomad4 OTH AF: 0.775

Alfa AF: 0.788 Hom.: 9590

Bravo AF: 0.751

Asia WGS AF: 0.556 AC: 1936 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.6
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7336380; hg19: chr13-38187748;