rs7318913

Variant names:

• chr13-67997905-C-G
• rs7318913

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 0.0411 in 151,956 control chromosomes in the GnomAD database, including 170 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 0.041 (170 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.700

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.0623 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: 0.0412 AC: 6249 AN: 151838 Hom.: 171 Cov.: 32

Gnomad AFR AF: 0.0139

Gnomad AMI AF: 0.0495

Gnomad AMR AF: 0.0659

Gnomad ASJ AF: 0.0562

Gnomad EAS AF: 0.000579

Gnomad SAS AF: 0.00912

Gnomad FIN AF: 0.0351

Gnomad MID AF: 0.102

Gnomad NFE AF: 0.0566

Gnomad OTH AF: 0.0654

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

GnomAD4 genome AF: 0.0411 AC: 6247 AN: 151956 Hom.: 170 Cov.: 32 AF XY: 0.0401 AC XY: 2981 AN XY: 74266

Gnomad4 AFR AF: 0.0139

Gnomad4 AMR AF: 0.0657

Gnomad4 ASJ AF: 0.0562

Gnomad4 EAS AF: 0.000580

Gnomad4 SAS AF: 0.00912

Gnomad4 FIN AF: 0.0351

Gnomad4 NFE AF: 0.0566

Gnomad4 OTH AF: 0.0648

Alfa AF: 0.0439 Hom.: 28

Bravo AF: 0.0429

Asia WGS AF: 0.00665 AC: 23 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.56
DANN	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7318913; hg19: chr13-68572037;