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NM_006662.3(SRCAP):c.6729+9dup AND Floating-Harbor syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 18, 2016
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:
RCV000490494.1

Allele description [Variation Report for NM_006662.3(SRCAP):c.6729+9dup]

NM_006662.3(SRCAP):c.6729+9dup

Gene:
SRCAP:Snf2 related CREBBP activator protein [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_006662.3(SRCAP):c.6729+9dup
HGVS:
  • NC_000016.10:g.30734624dup
  • NG_032135.1:g.40484dup
  • NM_006662.3:c.6729+9dupMANE SELECT
  • NC_000016.9:g.30745945dup
  • NM_006662.2:c.6729+2_6729+3insA
Links:
dbSNP: rs770423372
NCBI 1000 Genomes Browser:
rs770423372
Molecular consequence:
  • NM_006662.3:c.6729+9dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Floating-Harbor syndrome (FLHS)
Synonyms:
Short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes; Pelletier-Leisti syndrome
Identifiers:
MONDO: MONDO:0007621; MedGen: C0729582; Orphanet: 2044; OMIM: 136140

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267517Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 18, 2016) 		germlinereference population

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, et al.

Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19.

PubMed [citation]
PMID:
22265015
PMCID:
PMC3276662

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 Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267517.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022