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NM_003328.3(TXK):c.639G>T (p.Trp213Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 2022
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:
RCV004135448.1

Allele description [Variation Report for NM_003328.3(TXK):c.639G>T (p.Trp213Cys)]

NM_003328.3(TXK):c.639G>T (p.Trp213Cys)

Genes:
LOC126807050:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:48095793-48096992 [Gene]
TXK:TXK tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p12
Genomic location:
Preferred name:
NM_003328.3(TXK):c.639G>T (p.Trp213Cys)
HGVS:
  • NC_000004.12:g.48094147C>A
  • NG_083371.1:g.472C>A
  • NM_003328.3:c.639G>TMANE SELECT
  • NP_003319.2:p.Trp213Cys
  • NC_000004.11:g.48096164C>A
  • NM_003328.2:c.639G>T
Protein change:
W213C
Molecular consequence:
  • NM_003328.3:c.639G>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
SCV003614735Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 7, 2022) 		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, SCV003614735.2

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

Description

The c.639G>T (p.W213C) alteration is located in exon 8 (coding exon 8) of the TXK gene. This alteration results from a G to T substitution at nucleotide position 639, causing the tryptophan (W) at amino acid position 213 to be replaced by a cysteine (C). 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: Nov 3, 2024