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NC_000023.11:g.64203965_64205889del AND Osteopathia striata with cranial sclerosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 31, 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:
RCV001252644.1

Allele description [Variation Report for NC_000023.11:g.64203965_64205889del]

NC_000023.11:g.64203965_64205889del

Genes:
AMER1:APC membrane recruitment protein 1 [Gene - OMIM - HGNC]
LOC130068366:ATAC-STARR-seq lymphoblastoid silent region 20877 [Gene]
LOC130068367:ATAC-STARR-seq lymphoblastoid silent region 20878 [Gene]
Variant type:
Deletion
Cytogenetic location:
Xq11.2
Genomic location:
Preferred name:
NC_000023.11:g.64203965_64205889del
HGVS:
  • NC_000023.11:g.64203964_64205888del
  • NC_000023.11:g.64203965_64205889del
  • NG_021345.1:g.4857_6781del
  • LRG_1259:g.4857_6781del
  • NC_000023.10:g.63423844_63425768del
  • NC_000023.10:g.63423845_63425769del
Functional consequence:
Decreased function

Condition(s)

Name:
Osteopathia striata with cranial sclerosis (OSCS)
Synonyms:
HYPEROSTOSIS GENERALISATA WITH STRIATIONS; Osteopathia striata cranial sclerosis
Identifiers:
MONDO: MONDO:0010310; MedGen: C0432268; Orphanet: 2780; OMIM: 300373

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001426685Women's and Children's Health, University of Otago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 31, 2020) 		paternal, somaticresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot providednot providednot providedresearch
not providedsomaticyes1not providednot providednot providednot providedresearch

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 Women's and Children's Health, University of Otago, SCV001426685.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearch PubMed (1)
21not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided1not providednot providednot provided
2somaticyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 14, 2023