chr18-849177-A-C

Position:

• chr18-849177-A-C

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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;