NM_014363.6(SACS):c.7898C>T (p.Thr2633Ile) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 11, 2015
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:: RCV000622889.2

Allele description [Variation Report for NM_014363.6(SACS):c.7898C>T (p.Thr2633Ile)]

NM_014363.6(SACS):c.7898C>T (p.Thr2633Ile)

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.7898C>T (p.Thr2633Ile)

HGVS:

NC_000013.11:g.23335978G>A
NG_012342.1:g.102725C>T
NM_001278055.2:c.7457C>T
NM_014363.6:c.7898C>TMANE SELECT
NP_001264984.1:p.Thr2486Ile
NP_055178.3:p.Thr2633Ile
NC_000013.10:g.23910117G>A
NM_014363.4:c.7898C>T

Protein change:

T2486I

Links:

dbSNP: rs1555251295

NCBI 1000 Genomes Browser:

rs1555251295

Molecular consequence:

NM_001278055.2:c.7457C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014363.6:c.7898C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000741120	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Uncertain significance (Nov 11, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20488193, 23280630 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741120

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Uncertain significance
(Nov 11, 2015)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

The sacsin repeating region (SRR): a novel Hsp90-related supra-domain associated with neurodegeneration.

Anderson JF, Siller E, Barral JM.

J Mol Biol. 2010 Jul 23;400(4):665-74. doi: 10.1016/j.jmb.2010.05.023. Epub 2010 May 19. Review.

PubMed [citation]

PMID:: 20488193

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Romano A, Tessa A, Barca A, Fattori F, de Leva MF, Terracciano A, Storelli C, Santorelli FM, Verri T.

Hum Mutat. 2013 Mar;34(3):525-37. doi: 10.1002/humu.22269.

PubMed [citation]

PMID:: 23280630
PMCID:: PMC3629688

Details of each submission

From Ambry Genetics, SCV000741120.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 7, 2023

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