rs9301714

Variant names:

• chr13-91212026-C-A
• rs9301714

Your query was ambiguous. Multiple possible variants found:

• chr13-91212026-C-A
• chr13-91212026-C-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.0995 in 152,150 control chromosomes in the GnomAD database, including 2,178 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 0.099 (2178 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.184
• Publications: 0 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.313 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: 0.0993 AC: 15100 AN: 152032 Hom.: 2176 Cov.: 33

Gnomad AFR AF: 0.318

Gnomad AMI AF: 0.0187

Gnomad AMR AF: 0.0557

Gnomad ASJ AF: 0.00778

Gnomad EAS AF: 0.0181

Gnomad SAS AF: 0.0561

Gnomad FIN AF: 0.00481

Gnomad MID AF: 0.0285

Gnomad NFE AF: 0.00687

Gnomad OTH AF: 0.0835

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

GnomAD4 genome AF: 0.0995 AC: 15132 AN: 152150 Hom.: 2178 Cov.: 33 AF XY: 0.0967 AC XY: 7192 AN XY: 74406

African (AFR) AF: 0.318 AC: 13168 AN: 41456

American (AMR) AF: 0.0560 AC: 856 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.00778 AC: 27 AN: 3472

East Asian (EAS) AF: 0.0179 AC: 93 AN: 5184

South Asian (SAS) AF: 0.0558 AC: 269 AN: 4824

European-Finnish (FIN) AF: 0.00481 AC: 51 AN: 10610

Middle Eastern (MID) AF: 0.0272 AC: 8 AN: 294

European-Non Finnish (NFE) AF: 0.00687 AC: 467 AN: 68008

Other (OTH) AF: 0.0836 AC: 176 AN: 2106

Alfa AF: 0.0149 Hom.: 36

Bravo AF: 0.113

Asia WGS AF: 0.0740 AC: 258 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	1.2
DANN	Benign	0.42
PhyloP100		-0.18

Splicing

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

Other links and lift over

dbSNP: rs9301714; hg19: chr13-91864280;