GeneBe

ENST00000614670.1:c.175-17577G>C

Variant names:

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_021215.4(RPRD1B):​c.415+198C>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

GnomAD MNV: 𝑓 N/A
Genomes: 𝑓 N/A ( N/A hom., cov: )
Exomes 𝑓: N/A ( N/A hom. )

Consequence

RPRD1B
NM_021215.4 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

No conservation score assigned

Publications

No publications found
Variant links:
Genes affected
RPRD1B (HGNC:16209): (regulation of nuclear pre-mRNA domain containing 1B) Enables RNA polymerase II complex binding activity and identical protein binding activity. Involved in positive regulation of cell population proliferation; regulation of cell cycle process; and regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of RNA polymerase II, holoenzyme. [provided by Alliance of Genome Resources, Apr 2022]

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ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
RPRD1BNM_021215.4 linkc.415+198C>. intron_variant Intron 3 of 6 ENST00000373433.9 NP_067038.1
RPRD1BXM_047440346.1 linkc.91+8115C>. intron_variant Intron 1 of 4 XP_047296302.1
RPRD1BXM_047440347.1 linkc.16+61C>. intron_variant Intron 1 of 4 XP_047296303.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
RPRD1BENST00000373433.9 linkc.415+198C>. intron_variant Intron 3 of 6 1 NM_021215.4 ENSP00000362532.4
RPRD1BENST00000462548.6 linkn.*102+198C>. intron_variant Intron 2 of 5 5 ENSP00000436816.1
RPRD1BENST00000495457.1 linkn.281+8115C>. intron_variant Intron 2 of 3 4 ENSP00000433947.1

Frequencies

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

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Name
Calibrated prediction
Score
Prediction

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

Publications

Other links and lift over

hg19: chr20-36677081; API