NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) AND not provided

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Nov 23, 2020
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:: RCV000516670.8

Allele description [Variation Report for NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)]

NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)

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.6051G>C (p.Lys2017Asn)

HGVS:

NC_000013.11:g.23337825C>G
NG_012342.1:g.100878G>C
NM_001278055.2:c.5610G>C
NM_014363.6:c.6051G>CMANE SELECT
NP_001264984.1:p.Lys1870Asn
NP_055178.3:p.Lys2017Asn
NC_000013.10:g.23911964C>G
NM_014363.4:c.6051G>C
NM_014363.5:c.6051G>C

Protein change:

K1870N

Links:

dbSNP: rs35865691

NCBI 1000 Genomes Browser:

rs35865691

Molecular consequence:

NM_001278055.2:c.5610G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014363.6:c.6051G>C - missense variant - [Sequence Ontology: SO:0001583]

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

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000614967	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Jun 30, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23280630, 26467025
SCV001805726	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Nov 23, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000614967

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Jun 30, 2019)

germline

clinical testing

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

SCV001805726

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Nov 23, 2020)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Athena Diagnostics, SCV000614967.3

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

From GeneDx, SCV001805726.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine