rs1736247

Variant names:

• chr13-18558522-A-C
• rs1736247

Your query was ambiguous. Multiple possible variants found:

• chr13-18558522-A-C
• chr13-18558522-A-G
• chr13-18558522-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

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 0.14 (1869 hom., cov: 14)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.28

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.259 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: 0.135 AC: 10038 AN: 74370 Hom.: 1863 Cov.: 14

Gnomad AFR AF: 0.265

Gnomad AMI AF: 0.107

Gnomad AMR AF: 0.0717

Gnomad ASJ AF: 0.122

Gnomad EAS AF: 0.0346

Gnomad SAS AF: 0.0227

Gnomad FIN AF: 0.0807

Gnomad MID AF: 0.0632

Gnomad NFE AF: 0.0972

Gnomad OTH AF: 0.121

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

GnomAD4 genome AF: 0.135 AC: 10065 AN: 74470 Hom.: 1869 Cov.: 14 AF XY: 0.131 AC XY: 4734 AN XY: 36254

Gnomad4 AFR AF: 0.265

Gnomad4 AMR AF: 0.0716

Gnomad4 ASJ AF: 0.122

Gnomad4 EAS AF: 0.0347

Gnomad4 SAS AF: 0.0231

Gnomad4 FIN AF: 0.0807

Gnomad4 NFE AF: 0.0972

Gnomad4 OTH AF: 0.119

Alfa AF: 0.0955 Hom.: 196

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.7
DANN	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1736247; hg19: chr13-19132662;