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NM_019885.4(CYP26B1):c.74_77dup (p.Val28fs) AND Craniosynostosis syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 25, 2019
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:
RCV000985271.1

Allele description [Variation Report for NM_019885.4(CYP26B1):c.74_77dup (p.Val28fs)]

NM_019885.4(CYP26B1):c.74_77dup (p.Val28fs)

Gene:
CYP26B1:cytochrome P450 family 26 subfamily B member 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_019885.4(CYP26B1):c.74_77dup (p.Val28fs)
HGVS:
  • NC_000002.12:g.72147758_72147761dup
  • NG_007957.1:g.5074_5077dup
  • NM_001277742.2:c.74_77dup
  • NM_019885.4:c.74_77dupMANE SELECT
  • NP_001264671.1:p.Val28fs
  • NP_063938.1:p.Val28fs
  • NC_000002.11:g.72374887_72374890dup
  • NM_019885.3:c.74_77dupTGCT
Protein change:
V28fs
Links:
dbSNP: rs771651519
NCBI 1000 Genomes Browser:
rs771651519
Molecular consequence:
  • NM_001277742.2:c.74_77dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_019885.4:c.74_77dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Craniosynostosis syndrome
Synonyms:
Craniosynostosis
Identifiers:
MONDO: MONDO:0015469; MeSH: D003398; MedGen: C0010278; OMIM: PS123100; Human Phenotype Ontology: HP:0001363

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000995978Klinisk genetik och genomik Research, Gothenburg University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 25, 2019) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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

NGS targeted screening of 100 Scandinavian patients with coronal synostosis.

Topa A, Rohlin A, Andersson MK, Fehr A, Lovmar L, Stenman G, Kölby L.

Am J Med Genet A. 2020 Feb;182(2):348-356. doi: 10.1002/ajmg.a.61427. Epub 2019 Dec 14.

PubMed [citation]
PMID:
31837199

Details of each submission

From Klinisk genetik och genomik Research, Gothenburg University, SCV000995978.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022