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NM_001164277.2(SLC37A4):c.4G>A (p.Ala2Thr) AND Glucose-6-phosphate transport defect

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 18, 2017
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:
RCV000667188.1

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.4G>A (p.Ala2Thr)]

NM_001164277.2(SLC37A4):c.4G>A (p.Ala2Thr)

Gene:
SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_001164277.2(SLC37A4):c.4G>A (p.Ala2Thr)
HGVS:
  • NC_000011.10:g.119029366C>T
  • NG_013331.1:g.6541G>A
  • NM_001164277.2:c.4G>AMANE SELECT
  • NM_001164278.2:c.4G>A
  • NM_001164279.2:c.-172+26G>A
  • NM_001164280.2:c.4G>A
  • NM_001467.6:c.4G>A
  • NP_001157749.1:p.Ala2Thr
  • NP_001157749.1:p.Ala2Thr
  • NP_001157750.1:p.Ala2Thr
  • NP_001157752.1:p.Ala2Thr
  • NP_001458.1:p.Ala2Thr
  • LRG_187t1:c.4G>A
  • LRG_187:g.6541G>A
  • LRG_187p1:p.Ala2Thr
  • NC_000011.9:g.118900076C>T
  • NM_001164277.1:c.4G>A
Protein change:
A2T
Links:
dbSNP: rs1555191907
NCBI 1000 Genomes Browser:
rs1555191907
Molecular consequence:
  • NM_001164279.2:c.-172+26G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001164277.2:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164278.2:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164280.2:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001467.6:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glucose-6-phosphate transport defect (GSD1B)
Synonyms:
Glycogen storage disease type 1B; GSD Ib
Identifiers:
MONDO: MONDO:0009288; MedGen: C0268146; Orphanet: 364; Orphanet: 79259; OMIM: 232220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000791604Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(May 18, 2017) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000791604.1

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

Last Updated: Apr 15, 2024