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NM_001354768.3(NRL):c.448_466dup (p.Glu156fs) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2017
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:
RCV000626893.3

Allele description [Variation Report for NM_001354768.3(NRL):c.448_466dup (p.Glu156fs)]

NM_001354768.3(NRL):c.448_466dup (p.Glu156fs)

Gene:
NRL:neural retina leucine zipper [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_001354768.3(NRL):c.448_466dup (p.Glu156fs)
HGVS:
  • NC_000014.9:g.24081485_24081503dup
  • NG_011697.2:g.38513_38531dup
  • NM_001354768.3:c.448_466dupMANE SELECT
  • NM_001354769.1:c.448_466dup
  • NM_001354770.2:c.133_151dup
  • NM_006177.5:c.448_466dup
  • NP_001341697.1:p.Glu156fs
  • NP_001341698.1:p.Glu156fs
  • NP_001341699.1:p.Glu51fs
  • NP_006168.1:p.Glu156fs
  • NC_000014.8:g.24550692_24550693insCGTCGCGCCCGCAGCCCCG
  • NC_000014.8:g.24550694_24550712dup
  • NM_006177.3:c.448_466dupCGGGGCTGCGGGCGCGACG
Protein change:
E156fs
Links:
dbSNP: rs1555339028
NCBI 1000 Genomes Browser:
rs1555339028
Molecular consequence:
  • NM_001354768.3:c.448_466dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354769.1:c.448_466dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354770.2:c.133_151dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006177.5:c.448_466dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Foveal hypoplasia
Synonyms:
Hypoplasia of the fovea
Identifiers:
MONDO: MONDO:0044203; MedGen: C2673946; OMIM: PS136520; Human Phenotype Ontology: HP:0007750
Name:
Albinism
Identifiers:
MONDO: MONDO:0043209; MedGen: C0001916; Human Phenotype Ontology: HP:0001022
Name:
Abnormality of metabolism/homeostasis
Identifiers:
MedGen: C4021768; Human Phenotype Ontology: HP:0001939
Name:
Elevated circulating hepatic transaminase concentration
Synonyms:
Elevated hepatic transaminases; Elevated hepatic transaminase
Identifiers:
MedGen: C1848701; Human Phenotype Ontology: HP:0002910
Name:
Slow decrease in visual acuity
Identifiers:
MedGen: C1853141; Human Phenotype Ontology: HP:0007924
Name:
Choroidal neovascularization
Identifiers:
MONDO: MONDO:0810000; MedGen: C0600518; Human Phenotype Ontology: HP:0011506

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747596Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 1, 2017) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747596.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024