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NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 24, 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:
RCV002409629.2

Allele description [Variation Report for NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg)]

NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg)

Gene:
LZTR1:leucine zipper like post translational regulator 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg)
HGVS:
  • NC_000022.11:g.20994627_20994644dup
  • NG_034193.1:g.17359_17376dup
  • NM_006767.4:c.1685_1702dupMANE SELECT
  • NP_006758.2:p.Arg567_Gln568insLeuGluGlnLeuCysArg
  • LRG_989t1:c.1685_1702dup
  • LRG_989:g.17359_17376dup
  • LRG_989p1:p.Arg567_Gln568insLeuGluGlnLeuCysArg
  • NC_000022.10:g.21348906_21348907insTGTGCCGCCTGGAGCAGC
  • NC_000022.10:g.21348916_21348933dup
  • NM_006767.3:c.1685_1702dup
  • NM_006767.3:c.1685_1702dupTGGAGCAGCTGTGCCGCC
Links:
dbSNP: rs1924752851
NCBI 1000 Genomes Browser:
rs1924752851
Molecular consequence:
  • NM_006767.4:c.1685_1702dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002715858Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(May 24, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002715858.2

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

Description

The c.1685_1702dup18 variant (also known as p.L562_R567dup), located in coding exon 15 of the LZTR1 gene, results from an in-frame duplication of 18 nucleotides at nucleotide positions 1685 to 1702. This results in the duplication of 6 extra residues (LEQLCR) between codons 562 and 567. This amino acid region is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024