rs1291183

Variant names:

• chr18-849177-A-C
• rs1291183

Your query was ambiguous. Multiple possible variants found:

• chr18-849177-A-C
• chr18-849177-A-G
• chr18-849177-A-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 0.638 in 151,768 control chromosomes in the GnomAD database, including 31,569 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 0.64 (31569 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.441
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.61).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.713 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.638 AC: 96730 AN: 151648 Hom.: 31537 Cov.: 30

Gnomad AFR AF: 0.497

Gnomad AMI AF: 0.726

Gnomad AMR AF: 0.721

Gnomad ASJ AF: 0.709

Gnomad EAS AF: 0.663

Gnomad SAS AF: 0.732

Gnomad FIN AF: 0.649

Gnomad MID AF: 0.748

Gnomad NFE AF: 0.688

Gnomad OTH AF: 0.668

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

GnomAD4 genome AF: 0.638 AC: 96803 AN: 151768 Hom.: 31569 Cov.: 30 AF XY: 0.637 AC XY: 47240 AN XY: 74132

African (AFR) AF: 0.497 AC: 20574 AN: 41364

American (AMR) AF: 0.721 AC: 10993 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.709 AC: 2458 AN: 3468

East Asian (EAS) AF: 0.663 AC: 3389 AN: 5112

South Asian (SAS) AF: 0.733 AC: 3507 AN: 4784

European-Finnish (FIN) AF: 0.649 AC: 6851 AN: 10556

Middle Eastern (MID) AF: 0.762 AC: 224 AN: 294

European-Non Finnish (NFE) AF: 0.688 AC: 46726 AN: 67928

Other (OTH) AF: 0.673 AC: 1419 AN: 2110

Alfa AF: 0.676 Hom.: 113637

Bravo AF: 0.637

Asia WGS AF: 0.720 AC: 2502 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.61
CADD	Benign	11
DANN	Benign	0.53
PhyloP100		0.44

Splicing

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

Other links and lift over

dbSNP: rs1291183; hg19: chr18-849178; COSMIC: COSV69022791;