Variant chr18-60172536-C-A details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The variant allele was found at a frequency of 0.255 in 152,014 control chromosomes in the GnomAD database, including 5,334 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 0.26 ( 5334 hom., cov: 33)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.552

Variant links:

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ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.93).

BA1

GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.338 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes

AF:

0.255

AC:

38736

AN:

151896

Hom.:

5321

Cov.:

show subpopulations

Gnomad AFR

AF:

0.343

Gnomad AMI

AF:

0.309

Gnomad AMR

AF:

0.165

Gnomad ASJ

AF:

0.216

Gnomad EAS

AF:

0.181

Gnomad SAS

AF:

0.350

Gnomad FIN

AF:

0.171

Gnomad MID

AF:

0.304

Gnomad NFE

AF:

0.235

Gnomad OTH

AF:

0.239

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

GnomAD4 genome

AF:

0.255

AC:

38786

AN:

152014

Hom.:

5334

Cov.:

AF XY:

0.252

AC XY:

18696

AN XY:

74324

show subpopulations

Gnomad4 AFR

AF:

0.343

Gnomad4 AMR

AF:

0.165

Gnomad4 ASJ

AF:

0.216

Gnomad4 EAS

AF:

0.181

Gnomad4 SAS

AF:

0.352

Gnomad4 FIN

AF:

0.171

Gnomad4 NFE

AF:

0.235

Gnomad4 OTH

AF:

0.240

Alfa

AF:

0.231

Hom.:

9370

Bravo

AF:

0.257

Asia WGS

AF:

0.232

AC:

807

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.93

CADD

Benign

0.14

DANN

Benign

0.48

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Computational scores

Splicing

Publications

LitVar

Other links and lift over