NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) AND not provided

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Mar 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000863078.13

Allele description [Variation Report for NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)]

NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)

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.5461T>C (p.Cys1821Arg)

HGVS:

NC_000013.11:g.23338415A>G
NG_012342.1:g.100288T>C
NM_001278055.2:c.5020T>C
NM_014363.6:c.5461T>CMANE SELECT
NP_001264984.1:p.Cys1674Arg
NP_055178.3:p.Cys1821Arg
NC_000013.10:g.23912554A>G
NM_014363.4:c.5461T>C
NM_014363.5:c.5461T>C

Protein change:

C1674R

Links:

dbSNP: rs376680832

NCBI 1000 Genomes Browser:

rs376680832

Molecular consequence:

NM_001278055.2:c.5020T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014363.6:c.5461T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001145337	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Aug 16, 2019)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 25405613, 23280630, 25887915, 26467025
SCV004136809	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Mar 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001145337

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Aug 16, 2019)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV004136809

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Mar 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

Agha Z, Iqbal Z, Azam M, Ayub H, Vissers LE, Gilissen C, Ali SH, Riaz M, Veltman JA, Pfundt R, van Bokhoven H, Qamar R.

PLoS One. 2014;9(11):e112687. doi: 10.1371/journal.pone.0112687.

PubMed [citation]

PMID:: 25405613
PMCID:: PMC4236113

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

See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV001145337.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

From CeGaT Center for Human Genetics Tuebingen, SCV004136809.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

SACS: BS2

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

Last Updated: Oct 8, 2024

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