Variant rs1800587 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 0.317 in 152,114 control chromosomes in the GnomAD database, including 7,960 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 0.32 ( 7960 hom., cov: 33)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.170

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=-0.86).

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.387 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:

0.317

AC:

48202

AN:

151996

Hom.:

7944

Cov.:

show subpopulations

Gnomad AFR

AF:

0.392

Gnomad AMI

AF:

0.407

Gnomad AMR

AF:

0.291

Gnomad ASJ

AF:

0.343

Gnomad EAS

AF:

0.0787

Gnomad SAS

AF:

0.291

Gnomad FIN

AF:

0.316

Gnomad MID

AF:

0.377

Gnomad NFE

AF:

0.295

Gnomad OTH

AF:

0.308

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

GnomAD4 genome

AF:

0.317

AC:

48262

AN:

152114

Hom.:

7960

Cov.:

AF XY:

0.317

AC XY:

23570

AN XY:

74352

show subpopulations

Gnomad4 AFR

AF:

0.392

Gnomad4 AMR

AF:

0.291

Gnomad4 ASJ

AF:

0.343

Gnomad4 EAS

AF:

0.0787

Gnomad4 SAS

AF:

0.291

Gnomad4 FIN

AF:

0.316

Gnomad4 NFE

AF:

0.295

Gnomad4 OTH

AF:

0.306

Alfa

AF:

0.285

Hom.:

6471

Bravo

AF:

0.316

Asia WGS

AF:

0.212

AC:

741

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.86

CADD

Benign

2.6

DANN

Benign

0.38

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