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NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2022
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:
RCV002266459.1

Allele description [Variation Report for NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly)]

NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly)

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.6383A>G (p.Asp2128Gly)
HGVS:
  • NC_000013.11:g.23337493T>C
  • NG_012342.1:g.101210A>G
  • NM_001278055.2:c.5942A>G
  • NM_014363.4:c.6383A>G
  • NM_014363.6:c.6383A>GMANE SELECT
  • NP_001264984.1:p.Asp1981Gly
  • NP_055178.3:p.Asp2128Gly
  • NC_000013.10:g.23911632T>C
  • NM_014363.5:c.6383A>G
Protein change:
D1981G
Links:
dbSNP: rs762352013
NCBI 1000 Genomes Browser:
rs762352013
Molecular consequence:
  • NM_001278055.2:c.5942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.6383A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002548491Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(May 3, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002548491.1

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

Last Updated: Sep 29, 2024