U.S. flag

An official website of the United States government

NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Dec 13, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000676367.7

Allele description [Variation Report for NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)]

NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)

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.3506G>C (p.Gly1169Ala)
HGVS:
  • NC_000013.11:g.23340370C>G
  • NG_012342.1:g.98333G>C
  • NM_001278055.2:c.3065G>C
  • NM_014363.6:c.3506G>CMANE SELECT
  • NP_001264984.1:p.Gly1022Ala
  • NP_055178.3:p.Gly1169Ala
  • NC_000013.10:g.23914509C>G
  • NM_014363.4:c.3506G>C
  • NM_014363.5:c.3506G>C
Protein change:
G1022A
Links:
dbSNP: rs1443000762
NCBI 1000 Genomes Browser:
rs1443000762
Molecular consequence:
  • NM_001278055.2:c.3065G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.3506G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000802143Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Uncertain significance
(Mar 19, 2018) 		unknownclinical testing

SCV001476814Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Uncertain significance
(Dec 13, 2019) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000802143.1

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

From Athena Diagnostics, SCV001476814.1

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

Last Updated: Sep 29, 2024