chr15-90966504-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_003981.4(PRC1):​c.*627T>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0834 in 451,644 control chromosomes in the GnomAD database, including 1,805 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).

Frequency

Genomes: 𝑓 0.080 ( 539 hom., cov: 32)
Exomes 𝑓: 0.085 ( 1266 hom. )

Consequence

PRC1
NM_003981.4 3_prime_UTR

Scores

2

Clinical Significance

Uncertain significance no assertion criteria provided U:1

Conservation

PhyloP100: -0.355
Variant links:
Genes affected
PRC1 (HGNC:9341): (protein regulator of cytokinesis 1) This gene encodes a protein that is involved in cytokinesis. The protein is present at high levels during the S and G2/M phases of mitosis but its levels drop dramatically when the cell exits mitosis and enters the G1 phase. It is located in the nucleus during interphase, becomes associated with mitotic spindles in a highly dynamic manner during mitosis, and localizes to the cell mid-body during cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). It is necessary for polarizing parallel microtubules and concentrating the factors responsible for contractile ring assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PRC1-AS1 (HGNC:48587): (PRC1 antisense RNA 1)

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.77).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.0929 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
PRC1NM_003981.4 linkuse as main transcriptc.*627T>C 3_prime_UTR_variant 15/15 ENST00000394249.8
PRC1-AS1NR_051984.1 linkuse as main transcriptn.136A>G non_coding_transcript_exon_variant 1/4

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
PRC1ENST00000394249.8 linkuse as main transcriptc.*627T>C 3_prime_UTR_variant 15/151 NM_003981.4 O43663-1
PRC1-AS1ENST00000554388.2 linkuse as main transcriptn.165A>G non_coding_transcript_exon_variant 1/42

Frequencies

GnomAD3 genomes
AF:
0.0803
AC:
12219
AN:
152154
Hom.:
541
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.0808
Gnomad AMI
AF:
0.209
Gnomad AMR
AF:
0.0646
Gnomad ASJ
AF:
0.131
Gnomad EAS
AF:
0.0209
Gnomad SAS
AF:
0.0990
Gnomad FIN
AF:
0.0580
Gnomad MID
AF:
0.0918
Gnomad NFE
AF:
0.0855
Gnomad OTH
AF:
0.0923
GnomAD4 exome
AF:
0.0849
AC:
25414
AN:
299372
Hom.:
1266
Cov.:
0
AF XY:
0.0873
AC XY:
14868
AN XY:
170352
show subpopulations
Gnomad4 AFR exome
AF:
0.0789
Gnomad4 AMR exome
AF:
0.0476
Gnomad4 ASJ exome
AF:
0.135
Gnomad4 EAS exome
AF:
0.0208
Gnomad4 SAS exome
AF:
0.104
Gnomad4 FIN exome
AF:
0.0720
Gnomad4 NFE exome
AF:
0.0850
Gnomad4 OTH exome
AF:
0.0888
GnomAD4 genome
AF:
0.0803
AC:
12231
AN:
152272
Hom.:
539
Cov.:
32
AF XY:
0.0800
AC XY:
5956
AN XY:
74468
show subpopulations
Gnomad4 AFR
AF:
0.0807
Gnomad4 AMR
AF:
0.0645
Gnomad4 ASJ
AF:
0.131
Gnomad4 EAS
AF:
0.0210
Gnomad4 SAS
AF:
0.100
Gnomad4 FIN
AF:
0.0580
Gnomad4 NFE
AF:
0.0855
Gnomad4 OTH
AF:
0.0914
Alfa
AF:
0.0787
Hom.:
116
Bravo
AF:
0.0790
Asia WGS
AF:
0.0540
AC:
187
AN:
3478

ClinVar

Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: no assertion criteria provided
LINK: link

Submissions by phenotype

Familial cancer of breast Uncertain:1
Uncertain significance, no assertion criteria providedresearchResearch Lab, National Institute of Public HealthFeb 01, 2014- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.77
CADD
Benign
3.0
DANN
Benign
0.84
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.1

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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.

Other links and lift over

dbSNP: rs14280; hg19: chr15-91509734; API