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NM_001367624.2(ZNF469):c.9876dup (p.Ala3293fs) AND Brittle cornea syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 1, 2020
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:
RCV001260230.1

Allele description [Variation Report for NM_001367624.2(ZNF469):c.9876dup (p.Ala3293fs)]

NM_001367624.2(ZNF469):c.9876dup (p.Ala3293fs)

Gene:
ZNF469:zinc finger protein 469 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q24.2
Genomic location:
Preferred name:
NM_001367624.2(ZNF469):c.9876dup (p.Ala3293fs)
HGVS:
  • NC_000016.10:g.88437346dup
  • NG_012236.2:g.14876dup
  • NM_001367624.2:c.9876dupMANE SELECT
  • NP_001354553.1:p.Ala3293fs
  • NC_000016.9:g.88503754dup
  • NM_001367624.2:c.9876dupTMANE SELECT
Protein change:
A3293fs
Links:
dbSNP: rs1906662179
NCBI 1000 Genomes Browser:
rs1906662179
Molecular consequence:
  • NM_001367624.2:c.9876dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Brittle cornea syndrome 1 (BCS1)
Synonyms:
EDS6B; EDS VIB (formerly); Ehlers-Danlos syndrome type 6B (formerly); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0024543; MedGen: C0268344; Orphanet: 90354; OMIM: 229200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001437197Center for Medical Genetics Ghent, University of Ghent
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 1, 2020) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not 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

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.

Dhooge T, Van Damme T, Syx D, Mosquera LM, Nampoothiri S, Radhakrishnan A, Simsek-Kiper PO, Utine GE, Bonduelle M, Migeotte I, Essawi O, Ceylaner S, Al Kindy A, Tinkle B, Symoens S, Malfait F.

Hum Mutat. 2021 Jun;42(6):711-730. doi: 10.1002/humu.24199. Epub 2021 Apr 6. Review.

PubMed [citation]
PMID:
33739556

Details of each submission

From Center for Medical Genetics Ghent, University of Ghent, SCV001437197.1

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

Last Updated: Apr 23, 2022