NM_000138.5(FBN1):c.4336+11G>A AND Geleophysic dysplasia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 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:
RCV000389532.5

Allele description [Variation Report for NM_000138.5(FBN1):c.4336+11G>A]

NM_000138.5(FBN1):c.4336+11G>A

Genes:
LOC126862124:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 [Gene]
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.4336+11G>A
HGVS:
  • NC_000015.10:g.48472540C>T
  • NG_008805.2:g.178249G>A
  • NM_000138.5:c.4336+11G>AMANE SELECT
  • LRG_778t1:c.4336+11G>A
  • LRG_778:g.178249G>A
  • NC_000015.9:g.48764737C>T
  • NM_000138.4:c.4336+11G>A
Links:
dbSNP: rs886051249
NCBI 1000 Genomes Browser:
rs886051249
Molecular consequence:
  • NM_000138.5:c.4336+11G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Geleophysic dysplasia
Identifiers:
MONDO: MONDO:0000127; MedGen: C3489726; OMIM: PS231050

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000392351Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000392351.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024