NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 7, 2021
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:: RCV002474403.2

Allele description [Variation Report for NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)]

NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)

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.3427C>G (p.Gln1143Glu)

HGVS:

NC_000013.11:g.23340449G>C
NG_012342.1:g.98254C>G
NM_001278055.2:c.2986C>G
NM_014363.6:c.3427C>GMANE SELECT
NP_001264984.1:p.Gln996Glu
NP_055178.3:p.Gln1143Glu
NC_000013.10:g.23914588G>C
NM_014363.4:c.3427C>G

Protein change:

Q1143E

Molecular consequence:

NM_001278055.2:c.2986C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014363.6:c.3427C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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exocyst complex component EXO70B1 [Benincasa hispida]
exocyst complex component EXO70B1 [Benincasa hispida]
gi|1955836887|ref|XP_038874480.1|

Protein
auxin response factor 8 [Cucumis melo var. makuwa]
auxin response factor 8 [Cucumis melo var. makuwa]
gi|1731020842|gb|TYK08647.1||gnl|WG D|E5676_scaffold871G00080

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002770987	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Dec 7, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002770987

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Dec 7, 2021)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

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, SCV002770987.1

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

Last Updated: Sep 29, 2024

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