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NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln) AND Knobloch syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 26, 2018
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:
RCV001333463.1

Allele description [Variation Report for NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)]

NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)

Genes:
COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]
SLC19A1:solute carrier family 19 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)
Other names:
NM_130445.2:c.3530G>A
HGVS:
  • NC_000021.9:g.45510107G>A
  • NG_011903.1:g.109916G>A
  • NG_028278.2:g.58037C>T
  • NM_001379500.1:c.3539G>AMANE SELECT
  • NM_030582.3:c.4070G>A
  • NM_030582.4:c.4070G>A
  • NM_130444.3:c.4775G>A
  • NP_001366429.1:p.Arg1180Gln
  • NP_085059.2:p.Arg1357Gln
  • NP_569711.2:p.Arg1592Gln
  • NC_000021.8:g.46930021G>A
  • NM_001379500.1:c.3539G>A
Protein change:
R1180Q
Links:
dbSNP: rs200484625
NCBI 1000 Genomes Browser:
rs200484625
Molecular consequence:
  • NM_001379500.1:c.3539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030582.4:c.4070G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130444.3:c.4775G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Knobloch syndrome (KNO)
Synonyms:
RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE; Myopia retinal detachment encephalocele
Identifiers:
MONDO: MONDO:0800166; MedGen: C1849409; Orphanet: 1571; OMIM: PS267750

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001526043Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Feb 26, 2018)
unknownclinical testing

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

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 Baylor Genetics, SCV001526043.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Jul 15, 2024