NM_004563.4(PCK2):c.451_452dup (p.Met152fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 14, 2016
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:: RCV000676215.5

Allele description [Variation Report for NM_004563.4(PCK2):c.451_452dup (p.Met152fs)]

NM_004563.4(PCK2):c.451_452dup (p.Met152fs)

Genes:

NRL:neural retina leucine zipper [Gene - OMIM - HGNC]
PCK2:phosphoenolpyruvate carboxykinase 2, mitochondrial [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_004563.4(PCK2):c.451_452dup (p.Met152fs)

HGVS:

NC_000014.9:g.24098378_24098379dup
NG_008162.2:g.9105_9106dup
NG_011697.2:g.21636_21637dup
NM_001018073.3:c.451_452dup
NM_001291556.2:c.49_50dup
NM_001308054.2:c.49_50dup
NM_001354768.3:c.-27-15504_-27-15503dupMANE SELECT
NM_001354770.2:c.-27-15504_-27-15503dup
NM_004563.4:c.451_452dupMANE SELECT
NM_006177.5:c.-253-13634_-253-13633dup
NP_001018083.2:p.Met152fs
NP_001278485.1:p.Met18fs
NP_001294983.1:p.Met18fs
NP_004554.3:p.Met152fs
NC_000014.8:g.24567587_24567588dup
NM_004563.3:c.451_452dup

Protein change:

M152fs

Links:

dbSNP: rs1555341463

NCBI 1000 Genomes Browser:

rs1555341463

Molecular consequence:

NM_001018073.3:c.451_452dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001291556.2:c.49_50dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001308054.2:c.49_50dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004563.4:c.451_452dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354768.3:c.-27-15504_-27-15503dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354770.2:c.-27-15504_-27-15503dup - intron variant - [Sequence Ontology: SO:0001627]
NM_006177.5:c.-253-13634_-253-13633dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000801969	Mayo Clinic Laboratories, Mayo Clinic	no assertion criteria provided	Likely pathogenic (Mar 14, 2016)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000801969

Mayo Clinic Laboratories, Mayo Clinic

no assertion criteria provided

Likely pathogenic
(Mar 14, 2016)

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801969.1

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

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

Last Updated: Jun 10, 2023

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