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NM_173543.3(DZIP1L):c.2047G>T (p.Glu683Ter) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 13, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003151510.3

Allele description [Variation Report for NM_173543.3(DZIP1L):c.2047G>T (p.Glu683Ter)]

NM_173543.3(DZIP1L):c.2047G>T (p.Glu683Ter)

Gene:
DZIP1L:DAZ interacting zinc finger protein 1 like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q22.3
Genomic location:
Preferred name:
NM_173543.3(DZIP1L):c.2047G>T (p.Glu683Ter)
HGVS:
  • NC_000003.12:g.138064723C>A
  • NM_173543.3:c.2047G>TMANE SELECT
  • NP_775814.2:p.Glu683Ter
  • NC_000003.11:g.137783565C>A
  • NM_173543.2:c.2047G>T
Protein change:
E683*
Molecular consequence:
  • NM_173543.3:c.2047G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003839451Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Uncertain significance
(Jun 13, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003839451.1

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

Description

DNA sequence analysis of the DZIP1L gene demonstrated a sequence change, c.2047G>T, which results in the creation of a premature stop codon at amino acid position 683, p.Glu683*. This sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated DZIP1L protein with potentially abnormal function. This sequence change has not been described in the population databases such as ExAC and gnomAD. This sequence change does not appear to have been previously described in individuals with DZIP1L-related disorders. To date no other truncating variants have been described that are distal of this variant in this gene. The functional significance of this sequence change is not known at present and its contribution to this individual’s disease phenotype cannot definitively be determined.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024