rs754074166

Variant summary

Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS2

The NM_005859.5(PURA):​c.138_146del​(p.Gly47_Gly49del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000775 in 1,291,002 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (β˜…).

Frequency

Genomes: 𝑓 0.000029 ( 0 hom., cov: 32)
Exomes 𝑓: 0.0000052 ( 0 hom. )

Consequence

PURA
NM_005859.5 inframe_deletion

Scores

Not classified

Clinical Significance

Likely benign criteria provided, single submitter B:1

Conservation

PhyloP100: 3.31
Variant links:
Genes affected
PURA (HGNC:9701): (purine rich element binding protein A) This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -6 ACMG points.

BP6
Variant 5-140114310-TGGCGGCGGC-T is Benign according to our data. Variant chr5-140114310-TGGCGGCGGC-T is described in ClinVar as [Likely_benign]. Clinvar id is 1007198.Status of the report is criteria_provided_single_submitter, 1 stars.
BS2
High AC in GnomAdExome4 at 6 AD gene.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
PURANM_005859.5 linkuse as main transcriptc.138_146del p.Gly47_Gly49del inframe_deletion 1/1 ENST00000331327.5 NP_005850.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
PURAENST00000331327.5 linkuse as main transcriptc.138_146del p.Gly47_Gly49del inframe_deletion 1/1 NM_005859.5 ENSP00000332706 P1
PURAENST00000505703.2 linkuse as main transcriptc.138_146del p.Gly47_Gly49del inframe_deletion 2/23 ENSP00000498560
PURAENST00000651386.1 linkuse as main transcriptc.138_146del p.Gly47_Gly49del inframe_deletion 2/2 ENSP00000499133 P1

Frequencies

GnomAD3 genomes
AF:
0.0000287
AC:
4
AN:
139490
Hom.:
0
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.00
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000631
Gnomad OTH
AF:
0.00
GnomAD3 exomes
AF:
0.0000343
AC:
1
AN:
29190
Hom.:
0
AF XY:
0.0000552
AC XY:
1
AN XY:
18126
show subpopulations
Gnomad AFR exome
AF:
0.00
Gnomad AMR exome
AF:
0.00
Gnomad ASJ exome
AF:
0.00
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.00
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.0000672
Gnomad OTH exome
AF:
0.00
GnomAD4 exome
AF:
0.00000521
AC:
6
AN:
1151512
Hom.:
0
AF XY:
0.00000537
AC XY:
3
AN XY:
558780
show subpopulations
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00000622
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
AF:
0.0000287
AC:
4
AN:
139490
Hom.:
0
Cov.:
32
AF XY:
0.0000148
AC XY:
1
AN XY:
67752
show subpopulations
Gnomad4 AFR
AF:
0.00
Gnomad4 AMR
AF:
0.00
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.0000631
Gnomad4 OTH
AF:
0.00
Bravo
AF:
0.0000189

ClinVar

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

Submissions by phenotype

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Benign:1
Likely benign, criteria provided, single submitterclinical testingLabcorp Genetics (formerly Invitae), LabcorpFeb 20, 2023- -

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: rs754074166; hg19: chr5-139493895; API