NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Nov 29, 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:: RCV000713210.21

Allele description [Variation Report for NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)]

NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)

Gene:

SETX:senataxin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

Preferred name:

NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)

HGVS:

NC_000009.12:g.132327844C>T
NG_007946.1:g.32142G>A
NM_001351527.2:c.3754G>A
NM_001351528.2:c.3754G>A
NM_015046.7:c.3754G>AMANE SELECT
NP_001338456.1:p.Gly1252Arg
NP_001338457.1:p.Gly1252Arg
NP_055861.3:p.Gly1252Arg
NP_055861.3:p.Gly1252Arg
LRG_268t1:c.3754G>A
LRG_268:g.32142G>A
LRG_268p1:p.Gly1252Arg
NC_000009.11:g.135203231C>T
NM_015046.5:c.3754G>A
Q7Z333:p.Gly1252Arg

Protein change:

G1252R

Links:

UniProtKB: Q7Z333#VAR_018785; dbSNP: rs1183768

NCBI 1000 Genomes Browser:

rs1183768

Molecular consequence:

NM_001351527.2:c.3754G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351528.2:c.3754G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015046.7:c.3754G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000605090	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 29, 2023)	germline	clinical testing	Citation Link,
SCV000843796	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Apr 12, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 14770181, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000605090

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Nov 29, 2023)

germline

clinical testing

Citation Link,

SCV000843796

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Apr 12, 2017)

germline

clinical testing

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

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

Citations

PubMed

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, et al.

Nat Genet. 2004 Mar;36(3):225-7. Epub 2004 Feb 8.

PubMed [citation]

PMID:: 14770181

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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000605090.10

#	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

From Athena Diagnostics Inc, SCV000843796.1

#	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

Last Updated: Apr 20, 2024

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