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NM_032243.6(TXNDC2):c.1004T>C (p.Ile335Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 2024
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:
RCV004484026.1

Allele description [Variation Report for NM_032243.6(TXNDC2):c.1004T>C (p.Ile335Thr)]

NM_032243.6(TXNDC2):c.1004T>C (p.Ile335Thr)

Gene:
TXNDC2:thioredoxin domain containing 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18p11.22
Genomic location:
Preferred name:
NM_032243.6(TXNDC2):c.1004T>C (p.Ile335Thr)
HGVS:
  • NC_000018.10:g.9887684T>C
  • NM_001098529.2:c.1205T>C
  • NM_001098530.1:c.1004T>C
  • NM_032243.6:c.1004T>CMANE SELECT
  • NP_001091999.1:p.Ile402Thr
  • NP_001092000.1:p.Ile335Thr
  • NP_115619.4:p.Ile335Thr
  • NC_000018.9:g.9887681T>C
  • NM_001098529.1:c.1205T>C
Protein change:
I335T
Molecular consequence:
  • NM_001098529.2:c.1205T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001098530.1:c.1004T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032243.6:c.1004T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004974661Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 23, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004974661.1

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

Description

The c.1205T>C (p.I402T) alteration is located in exon 2 (coding exon 2) of the TXNDC2 gene. This alteration results from a T to C substitution at nucleotide position 1205, causing the isoleucine (I) at amino acid position 402 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024