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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000155211	Richard Lifton Laboratory, Yale University School of Medicine	no assertion criteria provided	unknown	somatic	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000155211

Richard Lifton Laboratory, Yale University School of Medicine

no assertion criteria provided

unknown

somatic

not provided

Description

PAPOLA:p.V488V: SCV000155211

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	not provided	not provided	not provided	not provided	2	not provided	literature only

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

Description

Converted during submission to Likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

Description

Converted during submission to Uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000120107	Richard 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-pathogenic	somatic	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000120107

Richard 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-pathogenic

somatic

not provided

Last Updated: Dec 9, 2023

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