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NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg) AND Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 28, 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:
RCV001824234.1

Allele description [Variation Report for NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg)]

NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg)

Gene:
G6PC3:glucose-6-phosphatase catalytic subunit 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg)
HGVS:
  • NC_000017.11:g.44074691G>A
  • NG_015818.1:g.8962G>A
  • NM_001319945.2:c.337G>A
  • NM_001384165.1:c.-9G>A
  • NM_001384166.1:c.-9G>A
  • NM_001384167.1:c.-9G>A
  • NM_001384168.1:c.-9G>A
  • NM_138387.4:c.337G>AMANE SELECT
  • NP_001306874.1:p.Gly113Arg
  • NP_612396.1:p.Gly113Arg
  • LRG_182:g.8962G>A
  • NC_000017.10:g.42152059G>A
Protein change:
G113R
Links:
dbSNP: rs2144147052
NCBI 1000 Genomes Browser:
rs2144147052
Molecular consequence:
  • NM_001384165.1:c.-9G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001384166.1:c.-9G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001384167.1:c.-9G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001384168.1:c.-9G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001319945.2:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138387.4:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Synonyms:
Severe congenital neutropenia 4, autosomal recessive; PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT; Dursun syndrome
Identifiers:
MONDO: MONDO:0012930; MedGen: C2751630; Orphanet: 331176; OMIM: 612541

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002073867Genomics Facility, Ludwig-Maximilians-Universität München
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 28, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genomics Facility, Ludwig-Maximilians-Universität München, SCV002073867.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedPBMCsnot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023