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NM_003038.5(SLC1A4):c.1120G>A (p.Gly374Arg) AND Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 11, 2023
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:
RCV003320284.3

Allele description [Variation Report for NM_003038.5(SLC1A4):c.1120G>A (p.Gly374Arg)]

NM_003038.5(SLC1A4):c.1120G>A (p.Gly374Arg)

Genes:
LINC02245:long intergenic non-protein coding RNA 2245 [Gene - HGNC]
SLC1A4:solute carrier family 1 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p14
Genomic location:
Preferred name:
NM_003038.5(SLC1A4):c.1120G>A (p.Gly374Arg)
HGVS:
  • NC_000002.12:g.65018156G>A
  • NG_053002.1:g.34712G>A
  • NM_001193493.2:c.226G>A
  • NM_001348406.2:c.460G>A
  • NM_001348407.2:c.460G>A
  • NM_003038.5:c.1120G>AMANE SELECT
  • NP_001180422.1:p.Gly76Arg
  • NP_001335335.1:p.Gly154Arg
  • NP_001335336.1:p.Gly154Arg
  • NP_003029.2:p.Gly374Arg
  • NC_000002.11:g.65245290G>A
Protein change:
G154R
Molecular consequence:
  • NM_001193493.2:c.226G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348406.2:c.460G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348407.2:c.460G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003038.5:c.1120G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Synonyms:
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Identifiers:
MONDO: MONDO:0014725; MedGen: C4225254; Orphanet: 447997; OMIM: 616657

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004024267Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 11, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV004024267.1

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

Last Updated: Jun 23, 2024