NM_014363.6(SACS):c.10611A>G (p.Ala3537=) AND not specified

Clinical significance:Likely benign (Last evaluated: Apr 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000516579.2

Allele description [Variation Report for NM_014363.6(SACS):c.10611A>G (p.Ala3537=)]

NM_014363.6(SACS):c.10611A>G (p.Ala3537=)

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.10611A>G (p.Ala3537=)
HGVS:
  • NC_000013.11:g.23333265T>C
  • NG_012342.1:g.105438A>G
  • NM_001278055.2:c.10170A>G
  • NM_014363.6:c.10611A>GMANE SELECT
  • NP_001264984.1:p.Ala3390=
  • NP_055178.3:p.Ala3537=
  • NC_000013.10:g.23907404T>C
  • NM_014363.4:c.10611A>G
  • NM_014363.5:c.10611A>G
  • p.Ala3537Ala
Links:
dbSNP: rs137856939
NCBI 1000 Genomes Browser:
rs137856939
Molecular consequence:
  • NM_001278055.2:c.10170A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014363.6:c.10611A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000707358EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Apr 20, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000707358.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2021

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