rs754074166
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS2
The NM_005859.5(PURA):βc.138_146delβ(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: π 0.000029 ( 0 hom., cov: 32)
Exomes π: 0.0000052 ( 0 hom. )
Consequence
PURA
NM_005859.5 inframe_deletion
NM_005859.5 inframe_deletion
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 3.31
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]
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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 |
---|---|---|---|---|---|---|---|---|
PURA | NM_005859.5 | c.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 |
---|---|---|---|---|---|---|---|---|---|---|
PURA | ENST00000331327.5 | c.138_146del | p.Gly47_Gly49del | inframe_deletion | 1/1 | NM_005859.5 | ENSP00000332706 | P1 | ||
PURA | ENST00000505703.2 | c.138_146del | p.Gly47_Gly49del | inframe_deletion | 2/2 | 3 | ENSP00000498560 | |||
PURA | ENST00000651386.1 | c.138_146del | p.Gly47_Gly49del | inframe_deletion | 2/2 | ENSP00000499133 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000287 AC: 4AN: 139490Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.0000343 AC: 1AN: 29190Hom.: 0 AF XY: 0.0000552 AC XY: 1AN XY: 18126
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GnomAD4 exome AF: 0.00000521 AC: 6AN: 1151512Hom.: 0 AF XY: 0.00000537 AC XY: 3AN XY: 558780
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GnomAD4 genome AF: 0.0000287 AC: 4AN: 139490Hom.: 0 Cov.: 32 AF XY: 0.0000148 AC XY: 1AN XY: 67752
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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 submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Feb 20, 2023 | - - |
Computational scores
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at