NM_016203.4(PRKAG2):c.1532G>A (p.Cys511Tyr) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 24, 2020
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:: RCV002402993.2

Allele description [Variation Report for NM_016203.4(PRKAG2):c.1532G>A (p.Cys511Tyr)]

NM_016203.4(PRKAG2):c.1532G>A (p.Cys511Tyr)

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.1532G>A (p.Cys511Tyr)

HGVS:

NC_000007.14:g.151564130C>T
NG_007486.2:g.318102G>A
NM_001040633.2:c.1400G>A
NM_001304527.2:c.1157G>A
NM_001304531.2:c.809G>A
NM_001363698.2:c.1160G>A
NM_001407021.1:c.1532G>A
NM_001407022.1:c.1529G>A
NM_001407023.1:c.1529G>A
NM_001407024.1:c.1400G>A
NM_001407026.1:c.1397G>A
NM_001407027.1:c.1397G>A
NM_001407028.1:c.1160G>A
NM_001407029.1:c.1157G>A
NM_001407030.1:c.1244G>A
NM_001407031.1:c.1241G>A
NM_001407032.1:c.1214G>A
NM_001407033.1:c.1208G>A
NM_001407034.1:c.809G>A
NM_001407035.1:c.809G>A
NM_001407036.1:c.806G>A
NM_001407037.1:c.869G>A
NM_001407038.1:c.857G>A
NM_001407039.1:c.806G>A
NM_001407040.1:c.806G>A
NM_016203.4:c.1532G>AMANE SELECT
NM_024429.2:c.809G>A
NP_001035723.1:p.Cys467Tyr
NP_001291456.1:p.Cys386Tyr
NP_001291460.1:p.Cys270Tyr
NP_001350627.1:p.Cys387Tyr
NP_001393950.1:p.Cys511Tyr
NP_001393951.1:p.Cys510Tyr
NP_001393952.1:p.Cys510Tyr
NP_001393953.1:p.Cys467Tyr
NP_001393955.1:p.Cys466Tyr
NP_001393956.1:p.Cys466Tyr
NP_001393957.1:p.Cys387Tyr
NP_001393958.1:p.Cys386Tyr
NP_001393959.1:p.Cys415Tyr
NP_001393960.1:p.Cys414Tyr
NP_001393961.1:p.Cys405Tyr
NP_001393962.1:p.Cys403Tyr
NP_001393963.1:p.Cys270Tyr
NP_001393964.1:p.Cys270Tyr
NP_001393965.1:p.Cys269Tyr
NP_001393966.1:p.Cys290Tyr
NP_001393967.1:p.Cys286Tyr
NP_001393968.1:p.Cys269Tyr
NP_001393969.1:p.Cys269Tyr
NP_057287.2:p.Cys511Tyr
NP_077747.1:p.Cys270Tyr
LRG_430t1:c.1532G>A
LRG_430:g.318102G>A
LRG_430p1:p.Cys511Tyr
NC_000007.13:g.151261216C>T
NM_016203.3:c.1532G>A

Protein change:

C269Y

Molecular consequence:

NM_001040633.2:c.1400G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304527.2:c.1157G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304531.2:c.809G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363698.2:c.1160G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407021.1:c.1532G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407022.1:c.1529G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407023.1:c.1529G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407024.1:c.1400G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407026.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407027.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407028.1:c.1160G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407029.1:c.1157G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407030.1:c.1244G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407031.1:c.1241G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407032.1:c.1214G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407033.1:c.1208G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407034.1:c.809G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407035.1:c.809G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407036.1:c.806G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407037.1:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407038.1:c.857G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407039.1:c.806G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407040.1:c.806G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_016203.4:c.1532G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024429.2:c.809G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Plant sample from Gossypium arboreum
Plant sample from Gossypium arboreum

biosample
PREDICTED: Homo sapiens MLX interacting protein like (MLXIPL), transcript varian...
PREDICTED: Homo sapiens MLX interacting protein like (MLXIPL), transcript variant X5, mRNA
gi|2217367287|ref|XM_047420433.1|

Nucleotide
nuclear export protein [Influenza A virus (A/black-headed gull/Netherlands/1/200...
nuclear export protein [Influenza A virus (A/black-headed gull/Netherlands/1/2008(H1N3))]
gi|1234110967|gb|ASU55005.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002706170	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 24, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002706170

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 24, 2020)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002706170.2

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

Description

The p.C511Y variant (also known as c.1532G>A), located in coding exon 14 of the PRKAG2 gene, results from a G to A substitution at nucleotide position 1532. The cysteine at codon 511 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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