NM_006662.2(SRCAP):c.7863dupG (p.Gln2622Alafs) AND Floating-Harbor syndrome

Clinical significance:Pathogenic (Last evaluated: Aug 22, 2014)

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:
RCV000033112.2

Allele description [Variation Report for NM_006662.2(SRCAP):c.7863dupG (p.Gln2622Alafs)]

NM_006662.2(SRCAP):c.7863dupG (p.Gln2622Alafs)

Gene:
SRCAP:Snf2-related CREBBP activator protein [Gene - OMIM]
Variant type:
Duplication
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_006662.2(SRCAP):c.7863dupG (p.Gln2622Alafs)
HGVS:
  • NC_000016.10:g.30737903dupG
  • NG_032135.1:g.43763dupG
  • NM_006662.2:c.7863dupG
  • NP_006653.2:p.Gln2622Alafs
  • NC_000016.9:g.30749224dupG
Links:
OMIM: 611421.0004; dbSNP: 587776938
NCBI 1000 Genomes Browser:
rs587776938
Molecular consequence:
  • NM_006662.2:c.7863dupG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056893OMIMno assertion criteria providedPathogenic
(Aug 22, 2014)
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

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Le Goff C, Mahaut C, Bottani A, Doray B, Goldenberg A, Moncla A, Odent S, Nitschke P, Munnich A, Faivre L, Cormier-Daire V.

Hum Mutat. 2013 Jan;34(1):88-92. doi: 10.1002/humu.22216. Epub 2012 Oct 16.

PubMed [citation]
PMID:
22965468

Details of each submission

From OMIM, SCV000056893.2

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

Description

In a 10-year-old French girl with Floating-Harbor syndrome (FHLS; 136140), Le Goff et al. (2013) identified heterozygosity for a de novo 1-bp duplication at nucleotide 7863 in exon 34 of the SRCAP gene, causing a frameshift predicted to result in a premature termination codon (Gln2622fsTer8). The mutation was not found in the girl's parents or in 200 control chromosomes.

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

Last Updated: Jun 29, 2015