NM_058179.4(PSAT1):c.571-4dup AND not provided

Clinical significance:Likely benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001529794.3

Allele description [Variation Report for NM_058179.4(PSAT1):c.571-4dup]

NM_058179.4(PSAT1):c.571-4dup

Gene:
PSAT1:phosphoserine aminotransferase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q21.2
Genomic location:
Preferred name:
NM_058179.4(PSAT1):c.571-4dup
HGVS:
  • NC_000009.12:g.78308410dup
  • NG_012165.1:g.16268dup
  • NM_021154.5:c.571-4dup
  • NM_058179.4:c.571-4dupMANE SELECT
  • NC_000009.11:g.80923326dup
  • NM_058179.3:c.571-4dup
  • NM_058179.3:c.571-4dupT
Links:
dbSNP: rs536197677
NCBI 1000 Genomes Browser:
rs536197677
Molecular consequence:
  • NM_021154.5:c.571-4dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_058179.4:c.571-4dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001743884Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV001929251Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001743884.3

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001929251.1

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

Last Updated: Nov 27, 2021

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