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NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu) AND Tetralogy of Fallot

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 8, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000678773.1

Allele description [Variation Report for NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu)]

NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu)

Genes:
ZFPM2-AS1:ZFPM2 antisense RNA 1 [Gene - HGNC]
ZFPM2:zinc finger protein, FOG family member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q23.1
Genomic location:
Preferred name:
NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu)
HGVS:
  • NC_000008.11:g.105801400A>G
  • NG_011723.2:g.487482A>G
  • NM_001362836.2:c.1159A>G
  • NM_001362837.2:c.922A>G
  • NM_012082.4:c.1318A>GMANE SELECT
  • NP_001349765.1:p.Lys387Glu
  • NP_001349766.1:p.Lys308Glu
  • NP_036214.2:p.Lys440Glu
  • NC_000008.10:g.106813628A>G
  • NG_011723.1:g.487482A>G
  • NM_012082.3:c.1318A>G
Protein change:
K308E
Links:
dbSNP: rs200311467
NCBI 1000 Genomes Browser:
rs200311467
Molecular consequence:
  • NM_001362836.2:c.1159A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362837.2:c.922A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012082.4:c.1318A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tetralogy of Fallot (TOF)
Synonyms:
Fallot tetralogy
Identifiers:
MONDO: MONDO:0008542; MedGen: C0039685; Orphanet: 3303; OMIM: 187500; Human Phenotype Ontology: HP:0001636

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804952Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Uncertain significance
(Jun 8, 2017) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000804952.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024