NM_006662.2(SRCAP):c.7549delC (p.Gln2517Lysfs) AND Floating-Harbor syndrome

Clinical significance:Pathogenic (Last evaluated: Feb 10, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000023897.4

Allele description [Variation Report for NM_006662.2(SRCAP):c.7549delC (p.Gln2517Lysfs)]

NM_006662.2(SRCAP):c.7549delC (p.Gln2517Lysfs)

Gene:
SRCAP:Snf2 related CREBBP activator protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_006662.2(SRCAP):c.7549delC (p.Gln2517Lysfs)
HGVS:
  • NC_000016.10:g.30737589delC
  • NG_032135.1:g.43449delC
  • NM_006662.2:c.7549delC
  • NP_006653.2:p.Gln2517Lysfs
  • NC_000016.9:g.30748910delC
Links:
OMIM: 611421.0003; dbSNP: 199469466
NCBI 1000 Genomes Browser:
rs199469466
Molecular consequence:
  • NM_006662.2:c.7549delC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Floating-Harbor syndrome (FLHS)
Identifiers:
MedGen: C0729582; Orphanet: 2044; OMIM: 136140
Age of onset:
Neonatal
Prevalence:
<1 / 1 000 000 2044

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000045188OMIMno assertion criteria providedPathogenic
(Feb 10, 2012)
germlineliterature only

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

Summary from all submissions

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

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

Details of each submission

From OMIM, SCV000045188.3

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

Description

In a 4.25-year-old boy of German and Mexican descent with Floating-Harbor syndrome (FLHS; 136140), Hood et al. (2012) identified heterozygosity for a de novo 1-bp deletion (7549delC) in exon 34 of the SRCAP gene, causing a frameshift predicted to result in a premature termination codon. The mutation was not present in his unaffected parents and was not represented in the dbSNP (build 131), 1000 Genomes Project, or NHLBI Exome Variant Server databases.

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

Last Updated: Jun 30, 2017