NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 24, 2021
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:: RCV001546980.4

Allele description [Variation Report for NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)]

NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)

Gene:

PRKAG2:protein kinase AMP-activated non-catalytic subunit gamma 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)

HGVS:

NC_000007.14:g.151781277G>A
NG_007486.2:g.100955C>T
NM_001040633.2:c.209C>T
NM_016203.4:c.341C>TMANE SELECT
NP_001035723.1:p.Pro70Leu
NP_057287.2:p.Pro114Leu
LRG_430t1:c.341C>T
LRG_430:g.100955C>T
LRG_430p1:p.Pro114Leu
NC_000007.13:g.151478363G>A
NC_000007.13:g.151478363G>A
NG_007486.1:g.100954C>T
NM_016203.3:c.341C>T

Protein change:

P114L

Links:

dbSNP: rs375174733

NCBI 1000 Genomes Browser:

rs375174733

Molecular consequence:

NM_001040633.2:c.209C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_016203.4:c.341C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001766596	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Nov 24, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001766596

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Nov 24, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001766596.3

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 912141; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918)

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

Last Updated: May 1, 2024

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