U.S. flag

An official website of the United States government

NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 26, 2018
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:
RCV000599242.1

Allele description [Variation Report for NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?)]

NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?)
HGVS:
  • NC_000013.11:g.23330138AC[1]
  • NG_012342.1:g.108563TG[1]
  • NM_001278055.2:c.13297_13298del
  • NM_014363.6:c.13738_13739delMANE SELECT
  • NP_001264984.1:p.Ter4433LysextTer?
  • NP_055178.3:p.Ter4580LysextTer?
  • NC_000013.10:g.23904276_23904277del
  • NC_000013.10:g.23904277AC[1]
  • NM_014363.4:c.13738_13739delTG
  • NM_014363.5:c.13738_13739delTG
  • NM_014363.6:c.13738_13739delTGMANE SELECT
Links:
dbSNP: rs776682685
NCBI 1000 Genomes Browser:
rs776682685
Molecular consequence:
  • NM_001278055.2:c.13297_13298del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014363.6:c.13738_13739del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001278055.2:c.13297_13298del - stop lost - [Sequence Ontology: SO:0001578]
  • NM_014363.6:c.13738_13739del - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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
SCV000710518GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 26, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000710518.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.13738_13739delTG variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.13738_13739delTG variant causes a 10 amino acid extension of the protein at codon 4580, resulting in an extension of the stop codon, denoted p.X4580KextX10. The c.13738_13739delTG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.13738_13739delTG as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 7, 2023