rs4145170

Variant names:

• chr18-29096708-G-A
• rs4145170

Your query was ambiguous. Multiple possible variants found:

• 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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;