NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 2, 2019)

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:
RCV000712994.3

Allele description [Variation Report for NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)]

NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)

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.9562T>C (p.Phe3188Leu)
HGVS:
  • NC_000013.11:g.23334314A>G
  • NG_012342.1:g.104389T>C
  • NM_001278055.2:c.9121T>C
  • NM_014363.6:c.9562T>CMANE SELECT
  • NP_001264984.1:p.Phe3041Leu
  • NP_055178.3:p.Phe3188Leu
  • NC_000013.10:g.23908453A>G
  • NM_014363.4:c.9562T>C
  • NM_014363.5:c.9562T>C
  • p.Phe3188Leu
Protein change:
F3041L
Links:
dbSNP: rs137905181
NCBI 1000 Genomes Browser:
rs137905181
Molecular consequence:
  • NM_001278055.2:c.9121T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.9562T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000843555Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Mar 15, 2018)
germlineclinical testing

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

SCV001713615Mayo Clinic Laboratories, Mayo Cliniccriteria provided, single submitter
Uncertain significance
(Sep 2, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing.

Zeiger WA, Jamal NI, Scheuner MT, Pittman P, Raymond KM, Morra M, Mishra SK.

JIMD Rep. 2018;41:47-51. doi: 10.1007/8904_2018_90. Epub 2018 Feb 17.

PubMed [citation]
PMID:
29453517
PMCID:
PMC6122056

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV000843555.1

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV001713615.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2021

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