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NM_001093771.3(TXNRD1):c.269G>T (p.Cys90Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 4, 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:
RCV004221545.1

Allele description [Variation Report for NM_001093771.3(TXNRD1):c.269G>T (p.Cys90Phe)]

NM_001093771.3(TXNRD1):c.269G>T (p.Cys90Phe)

Gene:
TXNRD1:thioredoxin reductase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.3
Genomic location:
Preferred name:
NM_001093771.3(TXNRD1):c.269G>T (p.Cys90Phe)
HGVS:
  • NC_000012.12:g.104258044G>T
  • NG_029392.1:g.47264G>T
  • NM_001093771.3:c.269G>TMANE SELECT
  • NP_001087240.1:p.Cys90Phe
  • NC_000012.11:g.104651822G>T
  • NM_001093771.1:c.269G>T
Protein change:
C90F
Molecular consequence:
  • NM_001093771.3:c.269G>T - 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
SCV003729220Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 4, 2021) 		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, SCV003729220.2

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

Description

The c.269G>T (p.C90F) alteration is located in exon 3 (coding exon 3) of the TXNRD1 gene. This alteration results from a G to T substitution at nucleotide position 269, causing the cysteine (C) at amino acid position 90 to be replaced by a phenylalanine (F). 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: Oct 26, 2024