rs4145170

Positions:

• chr18-29096708-G-A
• chr18-29096708-G-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 0.701 in 151,156 control chromosomes in the GnomAD database, including 37,333 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 0.70 (37333 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -5.52

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.728 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: 0.701 AC: 105913 AN: 151038 Hom.: 37284 Cov.: 32

Gnomad AFR AF: 0.660

Gnomad AMI AF: 0.784

Gnomad AMR AF: 0.723

Gnomad ASJ AF: 0.748

Gnomad EAS AF: 0.568

Gnomad SAS AF: 0.639

Gnomad FIN AF: 0.686

Gnomad MID AF: 0.759

Gnomad NFE AF: 0.734

Gnomad OTH AF: 0.734

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

GnomAD4 genome AF: 0.701 AC: 106019 AN: 151156 Hom.: 37333 Cov.: 32 AF XY: 0.697 AC XY: 51477 AN XY: 73812

Gnomad4 AFR AF: 0.660

Gnomad4 AMR AF: 0.723

Gnomad4 ASJ AF: 0.748

Gnomad4 EAS AF: 0.568

Gnomad4 SAS AF: 0.639

Gnomad4 FIN AF: 0.686

Gnomad4 NFE AF: 0.734

Gnomad4 OTH AF: 0.735

Alfa AF: 0.732 Hom.: 93426

Bravo AF: 0.707

Asia WGS AF: 0.625 AC: 2174 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.039
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4145170; hg19: chr18-26676672;