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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.638 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

Gnomad4 AFR AF: 0.497

Gnomad4 AMR AF: 0.721

Gnomad4 ASJ AF: 0.709

Gnomad4 EAS AF: 0.663

Gnomad4 SAS AF: 0.733

Gnomad4 FIN AF: 0.649

Gnomad4 NFE AF: 0.688

Gnomad4 OTH AF: 0.673

Alfa AF: 0.688 Hom.: 49614

Bravo AF: 0.637

Asia WGS AF: 0.720 AC: 2502 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

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