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NM_004416.3(DTX1):c.1429G>A (p.Glu477Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 12, 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:
RCV004093479.1

Allele description [Variation Report for NM_004416.3(DTX1):c.1429G>A (p.Glu477Lys)]

NM_004416.3(DTX1):c.1429G>A (p.Glu477Lys)

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.1429G>A (p.Glu477Lys)
HGVS:
  • NC_000012.12:g.113095084G>A
  • NM_004416.3:c.1429G>AMANE SELECT
  • NP_004407.2:p.Glu477Lys
  • NC_000012.11:g.113532889G>A
  • NM_004416.2:c.1429G>A
Protein change:
E477K
Molecular consequence:
  • NM_004416.3:c.1429G>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
SCV003555463Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 12, 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, SCV003555463.2

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

Description

The c.1429G>A (p.E477K) alteration is located in exon 7 (coding exon 7) of the DTX1 gene. This alteration results from a G to A substitution at nucleotide position 1429, causing the glutamic acid (E) at amino acid position 477 to be replaced by a lysine (K). 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