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NM_032638.5(GATA2):c.774C>G (p.His258Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 25, 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:
RCV002256845.2

Allele description [Variation Report for NM_032638.5(GATA2):c.774C>G (p.His258Gln)]

NM_032638.5(GATA2):c.774C>G (p.His258Gln)

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_032638.5(GATA2):c.774C>G (p.His258Gln)
HGVS:
  • NC_000003.12:g.128485824G>C
  • NG_029334.1:g.12364C>G
  • NM_001145661.2:c.774C>G
  • NM_001145662.1:c.774C>G
  • NM_032638.5:c.774C>GMANE SELECT
  • NP_001139133.1:p.His258Gln
  • NP_001139134.1:p.His258Gln
  • NP_116027.2:p.His258Gln
  • LRG_295t2:c.774C>G
  • LRG_295:g.12364C>G
  • NC_000003.11:g.128204667G>C
  • NM_032638.4:c.774C>G
Protein change:
H258Q
Links:
dbSNP: rs1353328065
NCBI 1000 Genomes Browser:
rs1353328065
Molecular consequence:
  • NM_001145661.2:c.774C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.774C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.774C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002529439Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(Sep 25, 2021) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002529439.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024