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NM_133443.4(GPT2):c.1037+5G>A AND Glutamate pyruvate transaminase 2 deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 17, 2020
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:
RCV001293354.2

Allele description [Variation Report for NM_133443.4(GPT2):c.1037+5G>A]

NM_133443.4(GPT2):c.1037+5G>A

Gene:
GPT2:glutamic--pyruvic transaminase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q11.2
Genomic location:
Preferred name:
NM_133443.4(GPT2):c.1037+5G>A
HGVS:
  • NC_000016.10:g.46918762G>A
  • NG_042110.1:g.39383G>A
  • NM_001142466.3:c.737+5G>A
  • NM_133443.4:c.1037+5G>AMANE SELECT
  • NC_000016.9:g.46952674G>A
  • NM_133443.3:c.1037+5G>A
Links:
dbSNP: rs1277787958
NCBI 1000 Genomes Browser:
rs1277787958
Molecular consequence:
  • NM_001142466.3:c.737+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133443.4:c.1037+5G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Glutamate pyruvate transaminase 2 deficiency (NEDSPM)
Synonyms:
Neurodevelopmental disorder with microcephaly and spastic paraplegia
Identifiers:
MONDO: MONDO:0014567; MedGen: C4225388; OMIM: 616281

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001443795Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Uncertain significance
(Apr 17, 2020) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes21not providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001443795.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

Composite heterozygote, observed with the variant NM_133443.3:c.1177dupG

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided2not provided1not provided

Last Updated: Jul 23, 2024