NM_014363.6(SACS):c.3915T>C (p.His1305=) AND Spastic paraplegia

Clinical significance:Likely benign (Last evaluated: Aug 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001446915.1

Allele description [Variation Report for NM_014363.6(SACS):c.3915T>C (p.His1305=)]

NM_014363.6(SACS):c.3915T>C (p.His1305=)

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.3915T>C (p.His1305=)
HGVS:
  • NC_000013.11:g.23339961A>G
  • NG_012342.1:g.98742T>C
  • NM_001278055.2:c.3474T>C
  • NM_014363.6:c.3915T>CMANE SELECT
  • NP_001264984.1:p.His1158=
  • NP_055178.3:p.His1305=
  • NC_000013.10:g.23914100A>G
  • NM_014363.4:c.3915T>C
  • NM_014363.5:c.3915T>C
Links:
dbSNP: rs767598017
NCBI 1000 Genomes Browser:
rs767598017
Molecular consequence:
  • NM_001278055.2:c.3474T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014363.6:c.3915T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Spastic paraplegia
Synonyms:
Spastic paraplegia, lower limb
Identifiers:
MedGen: C0037772; Human Phenotype Ontology: HP:0001258

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001649968Invitaecriteria provided, single submitter
Likely benign
(Aug 9, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001649968.1

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

Last Updated: Oct 8, 2021

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