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NM_004416.3(DTX1):c.914T>A (p.Val305Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 1, 2023
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:
RCV004263661.1

Allele description [Variation Report for NM_004416.3(DTX1):c.914T>A (p.Val305Glu)]

NM_004416.3(DTX1):c.914T>A (p.Val305Glu)

Gene:
DTX1:deltex E3 ubiquitin ligase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.13
Genomic location:
Preferred name:
NM_004416.3(DTX1):c.914T>A (p.Val305Glu)
HGVS:
  • NC_000012.12:g.113078078T>A
  • NM_004416.3:c.914T>AMANE SELECT
  • NP_004407.2:p.Val305Glu
  • NC_000012.11:g.113515883T>A
  • NM_004416.2:c.914T>A
Protein change:
V305E
Molecular consequence:
  • NM_004416.3:c.914T>A - 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
SCV003881410Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 1, 2023) 		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, SCV003881410.2

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

Description

The c.914T>A (p.V305E) alteration is located in exon 2 (coding exon 2) of the DTX1 gene. This alteration results from a T to A substitution at nucleotide position 914, causing the valine (V) at amino acid position 305 to be replaced by a glutamic acid (E). 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