NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: May 21, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000516875.7

Allele description [Variation Report for NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)]

NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)

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.6781C>A (p.Leu2261Ile)
HGVS:
  • NC_000013.11:g.23337095G>T
  • NG_012342.1:g.101608C>A
  • NM_001278055.2:c.6340C>A
  • NM_014363.6:c.6781C>AMANE SELECT
  • NP_001264984.1:p.Leu2114Ile
  • NP_055178.3:p.Leu2261Ile
  • NC_000013.10:g.23911234G>T
  • NM_014363.4:c.6781C>A
  • NM_014363.5:c.6781C>A
Protein change:
L2114I
Links:
dbSNP: rs146722795
NCBI 1000 Genomes Browser:
rs146722795
Molecular consequence:
  • NM_001278055.2:c.6340C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.6781C>A - 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
SCV000614973Athena Diagnostics Inccriteria provided, single submitter
Benign
(Dec 26, 2018)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV001817320GeneDxcriteria provided, single submitter
Likely benign
(May 21, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Genetic heterogeneity of motor neuropathies.

Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochm├╝ller H, Chinnery PF, Horvath R.

Neurology. 2017 Mar 28;88(13):1226-1234. doi: 10.1212/WNL.0000000000003772. Epub 2017 Mar 1.

PubMed [citation]
PMID:
28251916
PMCID:
PMC5373778

Exome sequencing in undiagnosed inherited and sporadic ataxias.

Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF.

Brain. 2015 Feb;138(Pt 2):276-83. doi: 10.1093/brain/awu348. Epub 2014 Dec 12.

PubMed [citation]
PMID:
25497598
PMCID:
PMC4306819
See all PubMed Citations (5)

Details of each submission

From Athena Diagnostics Inc, SCV000614973.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001817320.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 23280630, 19779133, 24457356, 28251916, 25497598)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 24, 2021

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