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NM_004416.3(DTX1):c.64G>T (p.Val22Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 13, 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:
RCV004363929.1

Allele description [Variation Report for NM_004416.3(DTX1):c.64G>T (p.Val22Leu)]

NM_004416.3(DTX1):c.64G>T (p.Val22Leu)

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.64G>T (p.Val22Leu)
HGVS:
  • NC_000012.12:g.113058256G>T
  • NG_126638.1:g.389G>T
  • NM_004416.3:c.64G>TMANE SELECT
  • NP_004407.2:p.Val22Leu
  • NC_000012.11:g.113496061G>T
  • NM_004416.2:c.64G>T
Protein change:
V22L
Molecular consequence:
  • NM_004416.3:c.64G>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
SCV004094990Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 13, 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, SCV004094990.2

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

Description

The c.64G>T (p.V22L) alteration is located in exon 1 (coding exon 1) of the DTX1 gene. This alteration results from a G to T substitution at nucleotide position 64, causing the valine (V) at amino acid position 22 to be replaced by a leucine (L). 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