NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 30, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000712964.2

Allele description [Variation Report for NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)]

NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)

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.1846G>C (p.Ala616Pro)
HGVS:
  • NC_000013.11:g.23354766C>G
  • NG_012342.1:g.83937G>C
  • NM_001278055.2:c.1405G>C
  • NM_014363.6:c.1846G>CMANE SELECT
  • NP_001264984.1:p.Ala469Pro
  • NP_055178.3:p.Ala616Pro
  • NC_000013.10:g.23928905C>G
  • NM_014363.4:c.1846G>C
  • NM_014363.5:c.1846G>C
Protein change:
A469P
Links:
dbSNP: rs200437752
NCBI 1000 Genomes Browser:
rs200437752
Molecular consequence:
  • NM_001278055.2:c.1405G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.1846G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000843524Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Mar 30, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.

Vermeer S, Meijer RP, Hofste TG, Bodmer D, Bosgoed EA, Cremers FP, Kremer BH, Knoers NV, Scheffer H.

J Mol Diagn. 2009 Nov;11(6):514-23. doi: 10.2353/jmoldx.2009.090059. Epub 2009 Sep 24.

PubMed [citation]
PMID:
19779133
PMCID:
PMC2765749

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Romano A, Tessa A, Barca A, Fattori F, de Leva MF, Terracciano A, Storelli C, Santorelli FM, Verri T.

Hum Mutat. 2013 Mar;34(3):525-37. doi: 10.1002/humu.22269.

PubMed [citation]
PMID:
23280630
PMCID:
PMC3629688
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV000843524.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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