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NM_001004334.4(GPR179):c.1727del (p.Tyr576fs) AND Congenital stationary night blindness 1E

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 27, 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:
RCV000761283.1

Allele description [Variation Report for NM_001004334.4(GPR179):c.1727del (p.Tyr576fs)]

NM_001004334.4(GPR179):c.1727del (p.Tyr576fs)

Gene:
GPR179:G protein-coupled receptor 179 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_001004334.4(GPR179):c.1727del (p.Tyr576fs)
HGVS:
  • NC_000017.11:g.38334761del
  • NG_032655.2:g.14050del
  • NM_001004334.4:c.1727delMANE SELECT
  • NP_001004334.3:p.Tyr576fs
  • NC_000017.10:g.36490644del
  • NM_001004334.2:c.1727delA
  • p.Tyr576SerfsX50
Protein change:
Y576fs
Links:
dbSNP: rs1567725425
NCBI 1000 Genomes Browser:
rs1567725425
Molecular consequence:
  • NM_001004334.4:c.1727del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Congenital stationary night blindness 1E
Synonyms:
Night blindness, congenital stationary (complete), 1E, autosomal recessive
Identifiers:
MONDO: MONDO:0013807; MedGen: C3281215; Orphanet: 215; OMIM: 614565

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000891243Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 27, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, et al.

Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209.

PubMed [citation]
PMID:
22325361
PMCID:
PMC3276675

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 Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV000891243.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024