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NM_032632.5(PAPOLA):c.1464A>G (p.Val488=) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000087244.6

Allele description [Variation Report for NM_032632.5(PAPOLA):c.1464A>G (p.Val488=)]

NM_032632.5(PAPOLA):c.1464A>G (p.Val488=)

Gene:
PAPOLA:poly(A) polymerase alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.2
Genomic location:
Preferred name:
NM_032632.5(PAPOLA):c.1464A>G (p.Val488=)
HGVS:
  • NC_000014.9:g.96547861A>G
  • NG_030439.1:g.50486A>G
  • NM_001293627.1:c.1464A>G
  • NM_001293628.2:c.714A>G
  • NM_001293632.3:c.714A>G
  • NM_001363662.3:c.1464A>G
  • NM_001363664.3:c.1464A>G
  • NM_001363665.3:c.1464A>G
  • NM_001363666.3:c.1464A>G
  • NM_032632.5:c.1464A>GMANE SELECT
  • NP_001280556.1:p.Val488=
  • NP_001280557.1:p.Val238=
  • NP_001280561.1:p.Val238=
  • NP_001350591.1:p.Val488=
  • NP_001350593.1:p.Val488=
  • NP_001350594.1:p.Val488=
  • NP_001350595.1:p.Val488=
  • NP_116021.2:p.Val488=
  • NP_116021.2:p.Val488=
  • NC_000014.8:g.97014198A>G
  • NM_032632.4:c.1464A>G
Links:
dbSNP: rs483352759
NCBI 1000 Genomes Browser:
rs483352759
Molecular consequence:
  • NM_001293627.1:c.1464A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293628.2:c.714A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293632.3:c.714A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001363662.3:c.1464A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001363664.3:c.1464A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001363665.3:c.1464A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001363666.3:c.1464A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_032632.5:c.1464A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000155211Richard Lifton Laboratory, Yale University School of Medicine
no assertion criteria provided
unknownsomaticnot provided

Description

PAPOLA:p.V488V

SCV000155211

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided2not providedliterature only

Details of each submission

From Richard Lifton Laboratory, Yale University School of Medicine, SCV000120107.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided1not providednot providednot providednot providednot providednot provided

From Richard Lifton Laboratory, Yale University School of Medicine, SCV000155211.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided1not providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000120107Richard Lifton Laboratory, Yale University School of Medicine
flagged submission
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV000120107 appears to be redundant with SCV000155211.
probable-pathogenicsomaticnot provided

Last Updated: Dec 9, 2023