Variant rs35352127 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 0.203 in 151,850 control chromosomes in the GnomAD database, including 3,406 homozygotes. There are 14,757 hemizygotes in GnomAD. 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 0.20 ( 3406 hom., 14757 hem., cov: 31)

Consequence

Unknown

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -3.26

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 (AFR) allele frequency at 95% confidence interval = 0.276 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:

0.203

AC:

30828

AN:

151732

Hom.:

3394

Cov.:

AF XY:

0.199

AC XY:

14710

AN XY:

74074

show subpopulations

Gnomad AFR

AF:

0.280

Gnomad AMI

AF:

0.115

Gnomad AMR

AF:

0.129

Gnomad ASJ

AF:

0.126

Gnomad EAS

AF:

0.208

Gnomad SAS

AF:

0.209

Gnomad FIN

AF:

0.141

Gnomad MID

AF:

0.139

Gnomad NFE

AF:

0.188

Gnomad OTH

AF:

0.176

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

GnomAD4 genome

AF:

0.203

AC:

30877

AN:

151850

Hom.:

3406

Cov.:

AF XY:

0.199

AC XY:

14757

AN XY:

74202

show subpopulations

Gnomad4 AFR

AF:

0.281

Gnomad4 AMR

AF:

0.128

Gnomad4 ASJ

AF:

0.126

Gnomad4 EAS

AF:

0.207

Gnomad4 SAS

AF:

0.208

Gnomad4 FIN

AF:

0.141

Gnomad4 NFE

AF:

0.188

Gnomad4 OTH

AF:

0.176

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.93

CADD

Benign

0.23

DANN

Benign

0.10

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