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NM_020719.3(PRR12):c.3505C>T (p.Arg1169Trp) AND Neuroocular syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 18, 2022
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:
RCV001707933.3

Allele description [Variation Report for NM_020719.3(PRR12):c.3505C>T (p.Arg1169Trp)]

NM_020719.3(PRR12):c.3505C>T (p.Arg1169Trp)

Gene:
PRR12:proline rich 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_020719.3(PRR12):c.3505C>T (p.Arg1169Trp)
HGVS:
  • NC_000019.10:g.49597840C>T
  • NG_051202.1:g.11664C>T
  • NM_020719.3:c.3505C>TMANE SELECT
  • NP_065770.1:p.Arg1169Trp
  • NC_000019.9:g.50101097C>T
Protein change:
R1169W; ARG1169TRP
Links:
OMIM: 616633.0005; dbSNP: rs1435355373
NCBI 1000 Genomes Browser:
rs1435355373
Molecular consequence:
  • NM_020719.3:c.3505C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neuroocular syndrome
Identifiers:
MONDO: MONDO:0859193; MedGen: C5551362; OMIM: PS619539

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002499752SIB Swiss Institute of Bioinformatics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 18, 2022) 		unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.

Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, et al.

Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6.

PubMed [citation]
PMID:
33824499

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 SIB Swiss Institute of Bioinformatics, SCV002499752.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

This variant is interpreted as likely pathogenic for Neuroocular syndrome, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); De novo with paternity and maternity confirmed (PS2).

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

Last Updated: Sep 16, 2024