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NM_015959.4(TMX2):c.614G>A (p.Arg205Gln) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 23, 2022
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:
RCV002245822.11

Allele description

NM_015959.4(TMX2):c.614G>A (p.Arg205Gln)

Genes:
TMX2-CTNND1:TMX2-CTNND1 readthrough (NMD candidate) [Gene - HGNC]
TMX2:thioredoxin related transmembrane protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.1
Genomic location:
Preferred name:
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln)
Other names:
TMX2, ARG205GLN (rs370455806)
HGVS:
  • NC_000011.10:g.57739039G>A
  • NG_052993.1:g.31517G>A
  • NM_001144012.3:c.500G>A
  • NM_001347890.2:c.614G>A
  • NM_001347891.2:c.530G>A
  • NM_001347892.2:c.407G>A
  • NM_001347893.2:c.332G>A
  • NM_001347894.2:c.332G>A
  • NM_001347895.2:c.332G>A
  • NM_001347896.2:c.332G>A
  • NM_001347898.2:c.603+11G>A
  • NM_015959.4:c.614G>AMANE SELECT
  • NP_001137484.1:p.Arg167Gln
  • NP_001334819.1:p.Arg205Gln
  • NP_001334820.1:p.Arg177Gln
  • NP_001334821.1:p.Arg136Gln
  • NP_001334822.1:p.Arg111Gln
  • NP_001334823.1:p.Arg111Gln
  • NP_001334824.1:p.Arg111Gln
  • NP_001334825.1:p.Arg111Gln
  • NP_057043.1:p.Arg205Gln
  • NC_000011.9:g.57506511G>A
  • NM_001144012.2:c.500G>A
  • NM_015959.3:c.614G>A
  • NM_015959.4:c.614G>A
  • NR_037645.2:n.449G>A
  • NR_144933.2:n.563G>A
  • NR_144935.2:n.640G>A
Protein change:
R111Q; ARG205GLN
Links:
OMIM: 616715.0003; dbSNP: rs370455806
NCBI 1000 Genomes Browser:
rs370455806
Molecular consequence:
  • NM_001347898.2:c.603+11G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144012.3:c.500G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347890.2:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347891.2:c.530G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347892.2:c.407G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347893.2:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347894.2:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347895.2:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347896.2:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015959.4:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037645.2:n.449G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_144933.2:n.563G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_144935.2:n.640G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002513710GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Dec 23, 2022) 		germlineclinical testing

Citation Link,

SCV002821627CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Oct 1, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002513710.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published functional studies demonstrate that this variant results in impaired splicing (Vandervore et al., 2019); This variant is associated with the following publications: (PMID: 31735293, 32552793, 31586943)

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

From CeGaT Center for Human Genetics Tuebingen, SCV002821627.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: May 12, 2024