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NM_001304993.2(SDSL):c.360G>A (p.Trp120Ter) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000709792.1

Allele description [Variation Report for NM_001304993.2(SDSL):c.360G>A (p.Trp120Ter)]

NM_001304993.2(SDSL):c.360G>A (p.Trp120Ter)

Gene:
SDSL:serine dehydratase like [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.13
Genomic location:
Preferred name:
NM_001304993.2(SDSL):c.360G>A (p.Trp120Ter)
HGVS:
  • NC_000012.12:g.113434139G>A
  • NM_001304993.2:c.360G>AMANE SELECT
  • NM_138432.4:c.360G>A
  • NP_001291922.1:p.Trp120Ter
  • NP_612441.1:p.Trp120Ter
  • NC_000012.11:g.113871944G>A
Protein change:
W120*
Links:
dbSNP: rs200347609
NCBI 1000 Genomes Browser:
rs200347609
Molecular consequence:
  • NM_001304993.2:c.360G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_138432.4:c.360G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840116GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000840116.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Dec 24, 2023