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NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) AND not provided

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Dec 7, 2023
Review status:
no classifications from unflagged records
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:
RCV000199189.2

Allele description [Variation Report for NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala)]

NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala)

Gene:
G6PC1:glucose-6-phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala)
Other names:
p.P315A:CCA>GCA
HGVS:
  • NC_000017.11:g.42911295C>G
  • NG_011808.1:g.15498C>G
  • NM_000151.4:c.943C>GMANE SELECT
  • NM_001270397.2:c.*335C>G
  • NP_000142.2:p.Pro315Ala
  • LRG_147t1:c.943C>G
  • LRG_147:g.15498C>G
  • NC_000017.10:g.41063312C>G
  • NM_000151.2:c.943C>G
  • NM_000151.3:c.943C>G
Protein change:
P315A
Links:
dbSNP: rs143321486
NCBI 1000 Genomes Browser:
rs143321486
Molecular consequence:
  • NM_001270397.2:c.*335C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000151.4:c.943C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000251522.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Pro315Ala (CCA>GCA): c.943 C>G in exon 5 of the G6PC gene (NM_000151.2). The P315A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The P315A variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense mutation in a nearby residue (F322L) has been reported in association with glycogen storage disease 1a, supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded The variant is found in MITONUC-MITOP panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000251522GeneDx
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Apr 10, 2014) 		germlineclinical testing

Citation Link

Last Updated: Sep 29, 2024