U.S. flag

An official website of the United States government

NM_015046.7(SETX):c.1156A>G (p.Met386Val) AND Charcot-Marie-Tooth disease type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 20, 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:
RCV002221638.2

Allele description [Variation Report for NM_015046.7(SETX):c.1156A>G (p.Met386Val)]

NM_015046.7(SETX):c.1156A>G (p.Met386Val)

Gene:
SETX:senataxin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_015046.7(SETX):c.1156A>G (p.Met386Val)
Other names:
chr9-132330442-T-C; p.Met386Val
HGVS:
  • NC_000009.12:g.132330442T>C
  • NG_007946.1:g.29544A>G
  • NM_001351527.2:c.1156A>G
  • NM_001351528.2:c.1156A>G
  • NM_015046.7:c.1156A>GMANE SELECT
  • NP_001338456.1:p.Met386Val
  • NP_001338457.1:p.Met386Val
  • NP_055861.3:p.Met386Val
  • LRG_268:g.29544A>G
  • NC_000009.11:g.135205829T>C
Protein change:
M386V
Links:
dbSNP: rs2131463372
NCBI 1000 Genomes Browser:
rs2131463372
Molecular consequence:
  • NM_001351527.2:c.1156A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351528.2:c.1156A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015046.7:c.1156A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 2
Synonyms:
Charcot-Marie-Tooth, Type 2
Identifiers:
MONDO: MONDO:0018993; MedGen: C0270914

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001977112Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 20, 2021) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providedyesresearch

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

Details of each submission

From Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo, SCV001977112.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearch PubMed (1)

Description

The c.1156A>G (p.Met386Val) variant in the SETX gene has not been described in the literature to our knowledge. Our lab found it once, in heterozygous, in a 13-years-old female with a CMT2 phenotype. This variant replaces Methionine with Valine at codon 386 of the SETX protein that is highly conserved across different species. This variant is not present in population databases (GnomAD and ABraOM), suggesting it is not a common benign variant in these populations. In summary, the available evidence is insufficient to determine the clinical significance of this variant. Therefore, it has been classified as a variant of uncertain significance (VUS).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Jun 23, 2024