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. The variant received -8 ACMG points: 0P and 8B. BP4_Strong BS2

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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BS2: High Homozygotes in GnomAd4 at 1869 gene

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.265 AC: 5267 AN: 19892

American (AMR) AF: 0.0716 AC: 529 AN: 7390

Ashkenazi Jewish (ASJ) AF: 0.122 AC: 181 AN: 1480

East Asian (EAS) AF: 0.0347 AC: 58 AN: 1670

South Asian (SAS) AF: 0.0231 AC: 56 AN: 2428

European-Finnish (FIN) AF: 0.0807 AC: 444 AN: 5502

Middle Eastern (MID) AF: 0.0595 AC: 10 AN: 168

European-Non Finnish (NFE) AF: 0.0972 AC: 3349 AN: 34460

Other (OTH) AF: 0.119 AC: 123 AN: 1030

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.

Alfa AF: 0.0955 Hom.: 196

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.7
DANN	Benign	0.62
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs1736247; hg19: chr13-19132662;