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NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 2, 2017
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:
RCV000595903.4

Allele description [Variation Report for NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe)]

NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe)

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.4172G>T (p.Cys1391Phe)
HGVS:
  • NC_000015.10:g.48474293C>A
  • NG_008805.2:g.176496G>T
  • NM_000138.4:c.4172G>T
  • NM_000138.5:c.4172G>TMANE SELECT
  • NP_000129.3:p.Cys1391Phe
  • LRG_778t1:c.4172G>T
  • LRG_778:g.176496G>T
  • NC_000015.9:g.48766490C>A
Protein change:
C1391F
Links:
dbSNP: rs1352478541
NCBI 1000 Genomes Browser:
rs1352478541
Molecular consequence:
  • NM_000138.5:c.4172G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000705849Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Feb 2, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000705849.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Nov 10, 2024