NM_016203.4(PRKAG2):c.1212C>G (p.Ile404Met) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 23, 2015
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:: RCV000216345.5

Allele description [Variation Report for NM_016203.4(PRKAG2):c.1212C>G (p.Ile404Met)]

NM_016203.4(PRKAG2):c.1212C>G (p.Ile404Met)

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.1212C>G (p.Ile404Met)

HGVS:

NC_000007.14:g.151568737G>C
NG_007486.1:g.313494C>G
NG_007486.2:g.313495C>G
NM_001040633.2:c.1080C>G
NM_001304527.2:c.837C>G
NM_001304531.2:c.489C>G
NM_001363698.2:c.840C>G
NM_016203.4:c.1212C>GMANE SELECT
NM_024429.2:c.489C>G
NP_001035723.1:p.Ile360Met
NP_001291456.1:p.Ile279Met
NP_001291460.1:p.Ile163Met
NP_001350627.1:p.Ile280Met
NP_057287.2:p.Ile404Met
NP_077747.1:p.Ile163Met
LRG_430t1:c.1212C>G
LRG_430:g.313495C>G
LRG_430p1:p.Ile404Met
NC_000007.13:g.151265823G>C
NM_016203.3:c.1212C>G

Protein change:

I163M

Links:

dbSNP: rs876657962

NCBI 1000 Genomes Browser:

rs876657962

Molecular consequence:

NM_001040633.2:c.1080C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001304527.2:c.837C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001304531.2:c.489C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363698.2:c.840C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_016203.4:c.1212C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_024429.2:c.489C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000272334	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Jun 23, 2015)	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

SCV000272334

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Jun 23, 2015)

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	not provided	2	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000272334.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

Description

The p.Ile404Met variant in PRKAG2 has not been previously reported in individual s with cardiomyopathy or in large population studies. This variant is located wi thin the CBS domain region where all pathogenic PRKAG2 variants have been identi fied to date (Oliveira 2003) and computational prediction tools and conservation analysis suggest that this variant may impact the protein. However, these data are insufficient to determine the clinical significance of the p.Ile404Met.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		2	not provided	1	not provided

Last Updated: Dec 24, 2022

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