NM_018444.4(PDP1):c.1614G>C (p.Ter538Tyr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 9, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001890548.4

Allele description [Variation Report for NM_018444.4(PDP1):c.1614G>C (p.Ter538Tyr)]

NM_018444.4(PDP1):c.1614G>C (p.Ter538Tyr)

Gene:

PDP1:pyruvate dehydrogenase phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

Preferred name:

NM_018444.4(PDP1):c.1614G>C (p.Ter538Tyr)

HGVS:

NC_000008.11:g.93923673G>C
NG_012233.1:g.11740G>C
NM_001161779.2:c.1689G>C
NM_001161780.2:c.1689G>C
NM_001161781.2:c.1614G>C
NM_018444.4:c.1614G>CMANE SELECT
NP_001155251.1:p.Ter563Tyr
NP_001155252.1:p.Ter563Tyr
NP_001155253.1:p.Ter538Tyr
NP_060914.2:p.Ter538Tyr
NC_000008.10:g.94935901G>C

Links:

dbSNP: rs139199750

NCBI 1000 Genomes Browser:

rs139199750

Molecular consequence:

NM_001161779.2:c.1689G>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001161780.2:c.1689G>C - stop lost - [Sequence Ontology: SO:0001578]
NM_001161781.2:c.1614G>C - stop lost - [Sequence Ontology: SO:0001578]
NM_018444.4:c.1614G>C - stop lost - [Sequence Ontology: SO:0001578]

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
SCV002150750	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 9, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002150750

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 9, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002150750.3

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

Description

ClinVar contains an entry for this variant (Variation ID: 1382785). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with PDP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the PDP1 mRNA. It is expected to extend the length of the PDP1 protein by 1 additional amino acid residues.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine