rs13361189

Variant names:

• chr5-150843825-T-C
• rs13361189

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 0.207 in 151,828 control chromosomes in the GnomAD database, including 5,212 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 0.21 (5212 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.790

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.437 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: 0.206 AC: 31327 AN: 151710 Hom.: 5198 Cov.: 32

Gnomad AFR AF: 0.442

Gnomad AMI AF: 0.0351

Gnomad AMR AF: 0.155

Gnomad ASJ AF: 0.164

Gnomad EAS AF: 0.432

Gnomad SAS AF: 0.211

Gnomad FIN AF: 0.0818

Gnomad MID AF: 0.206

Gnomad NFE AF: 0.0819

Gnomad OTH AF: 0.210

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

GnomAD4 genome AF: 0.207 AC: 31378 AN: 151828 Hom.: 5212 Cov.: 32 AF XY: 0.207 AC XY: 15330 AN XY: 74190

Gnomad4 AFR AF: 0.442 AC: 0.441891 AN: 0.441891

Gnomad4 AMR AF: 0.154 AC: 0.154143 AN: 0.154143

Gnomad4 ASJ AF: 0.164 AC: 0.164265 AN: 0.164265

Gnomad4 EAS AF: 0.433 AC: 0.432996 AN: 0.432996

Gnomad4 SAS AF: 0.210 AC: 0.209859 AN: 0.209859

Gnomad4 FIN AF: 0.0818 AC: 0.0818182 AN: 0.0818182

Gnomad4 NFE AF: 0.0819 AC: 0.081911 AN: 0.081911

Gnomad4 OTH AF: 0.211 AC: 0.211301 AN: 0.211301

Alfa AF: 0.134 Hom.: 6494

Bravo AF: 0.224

Asia WGS AF: 0.322 AC: 1122 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.93
DANN	Benign	0.38

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs13361189; hg19: chr5-150223387; COSMIC: COSV72988837;