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NM_152424.4(AMER1):c.780dup (p.Pro261fs) AND Osteopathia striata with cranial sclerosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2009
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:
RCV000011451.7

Allele description [Variation Report for NM_152424.4(AMER1):c.780dup (p.Pro261fs)]

NM_152424.4(AMER1):c.780dup (p.Pro261fs)

Gene:
AMER1:APC membrane recruitment protein 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq11.2
Genomic location:
Preferred name:
NM_152424.4(AMER1):c.780dup (p.Pro261fs)
HGVS:
  • NC_000023.11:g.64192511dup
  • NG_021345.1:g.18238dup
  • NM_152424.4:c.780dupMANE SELECT
  • NP_689637.3:p.Pro261fs
  • LRG_1259t1:c.780dup
  • LRG_1259:g.18238dup
  • LRG_1259p1:p.Pro261fs
  • NC_000023.10:g.63412391dup
  • NM_152424.3:c.780dupA
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
P261fs
Links:
OMIM: 300647.0002; dbSNP: rs1569192251
NCBI 1000 Genomes Browser:
rs1569192251
Molecular consequence:
  • NM_152424.4:c.780dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000031683OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2009) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, et al.

Nat Genet. 2009 Jan;41(1):95-100. doi: 10.1038/ng.270. Epub 2008 Dec 14.

PubMed [citation]
PMID:
19079258

Details of each submission

From OMIM, SCV000031683.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 35-year-old female with osteopathia striata with cranial sclerosis (OSCS; 300373), Jenkins et al. (2009) detected a de novo insertion of an adenine at nucleotide 780 of the WTX gene (780insA), resulting in a premature termination frameshift at amino acid 260 with 16 novel amino acids prior to termination (Pro260fs+16Ter). She had skewed X inactivation. She had an affected female child who exhibited orofacial clefting in addition to bony sclerosis at 2 months of age, and a male fetus who also manifested bony sclerosis and orofacial clefting.

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

Last Updated: Apr 23, 2022