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NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?) AND Congenital ocular coloboma

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 30, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000059341.2

Allele description [Variation Report for NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?)]

NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?)

Gene:
BFSP1:beaded filament structural protein 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
20p12.1
Genomic location:
Preferred name:
NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?)
HGVS:
  • NC_000020.11:g.17494076_17494077del
  • NG_012423.2:g.80144_80145del
  • NM_001161705.2:c.1620_1621del
  • NM_001195.5:c.1995_1996delMANE SELECT
  • NM_001278606.2:c.1578_1579del
  • NM_001278607.2:c.1662_1663del
  • NM_001278608.2:c.1578_1579del
  • NP_001155177.1:p.Ter541LysextTer?
  • NP_001186.1:p.Ter666LysextTer?
  • NP_001265535.1:p.Ter527LysextTer?
  • NP_001265536.1:p.Ter555LysextTer?
  • NP_001265537.1:p.Ter527LysextTer?
  • NC_000020.10:g.17474721_17474722del
  • NM_001195.4:c.1995_1996del
  • NM_001195.4:c.1995_1996delTT
Links:
dbSNP: rs548358901
NCBI 1000 Genomes Browser:
rs548358901
Molecular consequence:
  • NM_001161705.2:c.1620_1621del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195.5:c.1995_1996del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001278606.2:c.1578_1579del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001278607.2:c.1662_1663del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001278608.2:c.1578_1579del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Congenital ocular coloboma
Synonyms:
COLOBOMA OF IRIS, CHOROID, AND RETINA; COLOBOMA, UVEORETINAL; Coloboma of eye; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0001476; MedGen: C0009363; Orphanet: 194; Human Phenotype Ontology: HP:0000589

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000087417Eye Genetics Research Group, Children's Medical Research Institute
no assertion criteria provided
Uncertain significance
(Mar 30, 2012) 		maternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

Prokudin I, Simons C, Grigg JR, Storen R, Kumar V, Phua ZY, Smith J, Flaherty M, Davila S, Jamieson RV.

Eur J Hum Genet. 2014 Jul;22(7):907-15. doi: 10.1038/ejhg.2013.268. Epub 2013 Nov 27.

PubMed [citation]
PMID:
24281366
PMCID:
PMC4060118

Details of each submission

From Eye Genetics Research Group, Children's Medical Research Institute, SCV000087417.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024