Variant rs35864111 details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The NM_001318876.2(POLR1C):c.945+239533dup variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.60 ( 28121 hom., cov: 0)

Consequence

POLR1C
NM_001318876.2 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.536

Variant links:

Genes affected

POLR1C (HGNC:):

POLR1C links:

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -8 ACMG points.

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.782 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
POLR1C	NM_001318876.2 linkuse as main transcript	c.945+239533dup		intron_variant			NP_001305805.1

Ensembl

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

Frequencies

GnomAD3 genomes

AF:

0.597

AC:

90313

AN:

151200

Hom.:

28091

Cov.:

show subpopulations

Gnomad AFR

AF:

0.789

Gnomad AMI

AF:

0.279

Gnomad AMR

AF:

0.613

Gnomad ASJ

AF:

0.538

Gnomad EAS

AF:

0.726

Gnomad SAS

AF:

0.555

Gnomad FIN

AF:

0.446

Gnomad MID

AF:

0.538

Gnomad NFE

AF:

0.501

Gnomad OTH

AF:

0.617

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

GnomAD4 genome

AF:

0.597

AC:

90401

AN:

151318

Hom.:

28121

Cov.:

AF XY:

0.595

AC XY:

43960

AN XY:

73878

show subpopulations

Gnomad4 AFR

AF:

0.789

Gnomad4 AMR

AF:

0.613

Gnomad4 ASJ

AF:

0.538

Gnomad4 EAS

AF:

0.726

Gnomad4 SAS

AF:

0.553

Gnomad4 FIN

AF:

0.446

Gnomad4 NFE

AF:

0.501

Gnomad4 OTH

AF:

0.618

Alfa

AF:

0.448

Hom.:

940

Asia WGS

AF:

0.611

AC:

2123

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

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