NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) AND not specified

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Dec 10, 2021
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:: RCV000193608.13

Allele description [Variation Report for NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)]

NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)

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.4466A>G (p.Asn1489Ser)

HGVS:

NC_000013.11:g.23339410T>C
NG_012342.1:g.99293A>G
NM_001278055.2:c.4025A>G
NM_014363.6:c.4466A>GMANE SELECT
NP_001264984.1:p.Asn1342Ser
NP_055178.3:p.Asn1489Ser
NC_000013.10:g.23913549T>C
NM_014363.4:c.4466A>G
NM_014363.5:c.4466A>G

Protein change:

N1342S

Links:

dbSNP: rs147099630

NCBI 1000 Genomes Browser:

rs147099630

Molecular consequence:

NM_001278055.2:c.4025A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014363.6:c.4466A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000248786	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 27, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000704701	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Dec 23, 2016)	germline	clinical testing	Citation Link,
SCV001476820	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Mar 24, 2020)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 19779133, 26539891, 27980752, 26467025
SCV002050976	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Dec 10, 2021)	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	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.

Vermeer S, Meijer RP, Hofste TG, Bodmer D, Bosgoed EA, Cremers FP, Kremer BH, Knoers NV, Scheffer H.

J Mol Diagn. 2009 Nov;11(6):514-23. doi: 10.2353/jmoldx.2009.090059. Epub 2009 Sep 24.

PubMed [citation]

PMID:: 19779133
PMCID:: PMC2765749

See all PubMed Citations (5)

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000248786.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000704701.2

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

#	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		1	not provided	not provided	not provided

From Athena Diagnostics, SCV001476820.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002050976.1

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

#	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

Last Updated: Jun 29, 2024

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