Variant chr18-60067625-C-T 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 0.313 in 152,024 control chromosomes in the GnomAD database, including 8,413 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 0.31 ( 8413 hom., cov: 32)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -3.00

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=-0.92).

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.475 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:

0.313

AC:

47496

AN:

151906

Hom.:

8401

Cov.:

show subpopulations

Gnomad AFR

AF:

0.480

Gnomad AMI

AF:

0.323

Gnomad AMR

AF:

0.211

Gnomad ASJ

AF:

0.250

Gnomad EAS

AF:

0.167

Gnomad SAS

AF:

0.349

Gnomad FIN

AF:

0.180

Gnomad MID

AF:

0.345

Gnomad NFE

AF:

0.266

Gnomad OTH

AF:

0.302

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

GnomAD4 genome

AF:

0.313

AC:

47560

AN:

152024

Hom.:

8413

Cov.:

AF XY:

0.308

AC XY:

22857

AN XY:

74318

show subpopulations

Gnomad4 AFR

AF:

0.480

Gnomad4 AMR

AF:

0.211

Gnomad4 ASJ

AF:

0.250

Gnomad4 EAS

AF:

0.167

Gnomad4 SAS

AF:

0.350

Gnomad4 FIN

AF:

0.180

Gnomad4 NFE

AF:

0.266

Gnomad4 OTH

AF:

0.302

Alfa

AF:

0.266

Hom.:

9476

Bravo

AF:

0.321

Asia WGS

AF:

0.232

AC:

805

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.92

CADD

Benign

0.047

DANN

Benign

0.56

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