U.S. flag

An official website of the United States government

NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 21, 2017
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:
RCV000593641.4

Allele description [Variation Report for NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)]

NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)

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.13615C>T (p.Pro4539Ser)
HGVS:
  • NC_000013.11:g.23330261G>A
  • NG_012342.1:g.108442C>T
  • NM_001278055.2:c.13174C>T
  • NM_014363.6:c.13615C>TMANE SELECT
  • NP_001264984.1:p.Pro4392Ser
  • NP_055178.3:p.Pro4539Ser
  • NC_000013.10:g.23904400G>A
Protein change:
P4392S
Links:
dbSNP: rs1555249106
NCBI 1000 Genomes Browser:
rs1555249106
Molecular consequence:
  • NM_001278055.2:c.13174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.13615C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
SCV000700829Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Likely pathogenic
(Feb 21, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000700829.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Dec 30, 2023