chr19-49861087-G-GC

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1

The ENST00000636840.1(PNKP):​c.59+520_59+521insG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0378 in 677,362 control chromosomes in the GnomAD database, including 914 homozygotes. Variant has been reported in ClinVar as Likely benign (★).

Frequency

Genomes: 𝑓 0.026 ( 93 hom., cov: 32)
Exomes 𝑓: 0.041 ( 821 hom. )

Consequence

PNKP
ENST00000636840.1 intron

Scores

Not classified

Clinical Significance

Likely benign criteria provided, single submitter B:1

Conservation

PhyloP100: -0.500
Variant links:
Genes affected
PNKP (HGNC:9154): (polynucleotide kinase 3'-phosphatase) This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -10 ACMG points.

BP6
Variant 19-49861087-G-GC is Benign according to our data. Variant chr19-49861087-G-GC is described in ClinVar as [Likely_benign]. Clinvar id is 1208797.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.113 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
PNKPENST00000636840.1 linkuse as main transcriptc.59+520_59+521insG intron_variant 5 ENSP00000490737

Frequencies

GnomAD3 genomes
AF:
0.0262
AC:
3988
AN:
152154
Hom.:
90
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.00678
Gnomad AMI
AF:
0.0650
Gnomad AMR
AF:
0.0181
Gnomad ASJ
AF:
0.0441
Gnomad EAS
AF:
0.0591
Gnomad SAS
AF:
0.121
Gnomad FIN
AF:
0.0192
Gnomad MID
AF:
0.0570
Gnomad NFE
AF:
0.0301
Gnomad OTH
AF:
0.0282
GnomAD4 exome
AF:
0.0412
AC:
21635
AN:
525090
Hom.:
821
AF XY:
0.0453
AC XY:
12819
AN XY:
282670
show subpopulations
Gnomad4 AFR exome
AF:
0.00748
Gnomad4 AMR exome
AF:
0.0118
Gnomad4 ASJ exome
AF:
0.0435
Gnomad4 EAS exome
AF:
0.0727
Gnomad4 SAS exome
AF:
0.117
Gnomad4 FIN exome
AF:
0.0233
Gnomad4 NFE exome
AF:
0.0312
Gnomad4 OTH exome
AF:
0.0353
GnomAD4 genome
AF:
0.0262
AC:
3996
AN:
152272
Hom.:
93
Cov.:
32
AF XY:
0.0265
AC XY:
1974
AN XY:
74450
show subpopulations
Gnomad4 AFR
AF:
0.00676
Gnomad4 AMR
AF:
0.0181
Gnomad4 ASJ
AF:
0.0441
Gnomad4 EAS
AF:
0.0592
Gnomad4 SAS
AF:
0.121
Gnomad4 FIN
AF:
0.0192
Gnomad4 NFE
AF:
0.0301
Gnomad4 OTH
AF:
0.0322
Alfa
AF:
0.0239
Hom.:
3
Bravo
AF:
0.0230
Asia WGS
AF:
0.122
AC:
422
AN:
3478

ClinVar

Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not provided Benign:1
Likely benign, criteria provided, single submitterclinical testingGeneDxJun 14, 2018- -

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.

Other links and lift over

dbSNP: rs3739210; hg19: chr19-50364344; API