NC_000023.11:g.63635938_64279758del AND Osteopathia striata with cranial sclerosis

Germline classification:: Pathogenic (1 submission)
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:: RCV001251253.1

Allele description [Variation Report for NC_000023.11:g.63635938_64279758del]

NC_000023.11:g.63635938_64279758del

Genes:

AMER1:APC membrane recruitment protein 1 [Gene - OMIM - HGNC]
ARHGEF9:Cdc42 guanine nucleotide exchange factor 9 [Gene - OMIM - HGNC]
ASB12:ankyrin repeat and SOCS box containing 12 [Gene - OMIM - HGNC]
MTMR8:myotubularin related protein 8 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq11.1-11.2

Genomic location:

ChrX: 62855818 - 63499638 (on Assembly GRCh37)

Preferred name:

NC_000023.11:g.63635938_64279758del

HGVS:

NC_000023.11:g.63635938_64279758del
NC_000023.10:g.62855818_63499638del

Links:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001426760	Women's and Children's Health, University of Otago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	de novo	provider interpretation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001426760

Women's and Children's Health, University of Otago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

de novo

provider interpretation

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	not provided	provider interpretation

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, SCV001426760.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	provider interpretation	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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