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NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) AND not specified

Germline classification:
Benign (3 submissions)
Last evaluated:
Nov 29, 2019
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000173862.10

Allele description [Variation Report for NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)]

NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)

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.8873A>G (p.Lys2958Arg)
HGVS:
  • NC_000013.11:g.23335003T>C
  • NG_012342.1:g.103700A>G
  • NM_001278055.2:c.8432A>G
  • NM_014363.6:c.8873A>GMANE SELECT
  • NP_001264984.1:p.Lys2811Arg
  • NP_055178.3:p.Lys2958Arg
  • NC_000013.10:g.23909142T>C
  • NM_014363.4:c.8873A>G
  • NM_014363.5:c.8873A>G
  • Q9NZJ4:p.Lys2958Arg
Protein change:
K2811R
Links:
UniProtKB: Q9NZJ4#VAR_059719; dbSNP: rs11839380
NCBI 1000 Genomes Browser:
rs11839380
Molecular consequence:
  • NM_001278055.2:c.8432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.8873A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000225026Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Sep 24, 2014) 		germlineclinical testing

Citation Link,

SCV000312163PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benigngermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001475445Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Nov 29, 2019) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

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 Eurofins Ntd Llc (ga), SCV000225026.5

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

From PreventionGenetics, part of Exact Sciences, SCV000312163.1

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

From Athena Diagnostics, SCV001475445.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024