NM_014363.6(SACS):c.1656A>G (p.Leu552=) AND not provided

Clinical significance:Benign (Last evaluated: Jul 6, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000676371.3

Allele description [Variation Report for NM_014363.6(SACS):c.1656A>G (p.Leu552=)]

NM_014363.6(SACS):c.1656A>G (p.Leu552=)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.1656A>G (p.Leu552=)
HGVS:
  • NC_000013.11:g.23354956T>C
  • NG_012342.1:g.83747A>G
  • NM_001278055.2:c.1215A>G
  • NM_014363.6:c.1656A>GMANE SELECT
  • NP_001264984.1:p.Leu405=
  • NP_055178.3:p.Leu552=
  • NC_000013.10:g.23929095T>C
  • NM_014363.4:c.1656A>G
  • NM_014363.5:c.1656A>G
Links:
dbSNP: rs1536365
NCBI 1000 Genomes Browser:
rs1536365
Molecular consequence:
  • NM_001278055.2:c.1215A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014363.6:c.1656A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000802147Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedBenign
(Feb 22, 2016)
unknownclinical testing

SCV001872024GeneDxcriteria provided, single submitter
Benign
(Jul 6, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000802147.1

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

From GeneDx, SCV001872024.1

#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 20, 2021

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