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NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2012
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:
RCV000038929.15

Allele description [Variation Report for NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu)]

NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu)

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.206C>T (p.Pro69Leu)
Other names:
p.P69L:CCG>CTG
HGVS:
  • NC_000007.14:g.151781412G>A
  • NG_007486.2:g.100820C>T
  • NM_001040633.2:c.74C>T
  • NM_016203.4:c.206C>TMANE SELECT
  • NP_001035723.1:p.Pro25Leu
  • NP_057287.2:p.Pro69Leu
  • LRG_430t1:c.206C>T
  • LRG_430:g.100820C>T
  • LRG_430p1:p.Pro69Leu
  • NC_000007.13:g.151478498G>A
  • NG_007486.1:g.100819C>T
  • NM_016203.3:c.206C>T
  • c.206C>T
Protein change:
P25L
Links:
dbSNP: rs182750960
NCBI 1000 Genomes Browser:
rs182750960
Molecular consequence:
  • NM_001040633.2:c.74C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016203.4:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000062607Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(May 3, 2012) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical 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, SCV000062607.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The Pro69Leu varian t (PRKAG2) has not been reported in the literature nor previously identified by our laboratory, but is listed in dbSNP (rs182750960) without frequency informati on. Proline (Pro) at position 69 is not conserved in mammals, and computational analyses (AlignGVGD, PolyPhen2, and SIFT) suggest that the Pro69Leu variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Although this data supports that the Pro69Leu variant may be benign, additional studies are needed to fully assess its clinical significance .

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Nov 10, 2024