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NM_014828.4(TOX4):c.1781A>G (p.Asn594Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 29, 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:
RCV004137806.1

Allele description [Variation Report for NM_014828.4(TOX4):c.1781A>G (p.Asn594Ser)]

NM_014828.4(TOX4):c.1781A>G (p.Asn594Ser)

Gene:
TOX4:TOX high mobility group box family member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_014828.4(TOX4):c.1781A>G (p.Asn594Ser)
HGVS:
  • NC_000014.9:g.21495368A>G
  • NM_001303523.2:c.1712A>G
  • NM_014828.4:c.1781A>GMANE SELECT
  • NP_001290452.1:p.Asn571Ser
  • NP_055643.1:p.Asn594Ser
  • NC_000014.8:g.21963527A>G
  • NM_014828.2:c.1781A>G
Protein change:
N571S
Molecular consequence:
  • NM_001303523.2:c.1712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014828.4:c.1781A>G - 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
SCV003614824Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 29, 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, SCV003614824.2

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

Description

The c.1781A>G (p.N594S) alteration is located in exon 8 (coding exon 8) of the TOX4 gene. This alteration results from a A to G substitution at nucleotide position 1781, causing the asparagine (N) at amino acid position 594 to be replaced by a serine (S). 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