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NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 18, 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:
RCV000515227.10

Allele description [Variation Report for NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)]

NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)

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.6806T>C (p.Ile2269Thr)
HGVS:
  • NC_000015.10:g.48430736A>G
  • NG_008805.2:g.220053T>C
  • NM_000138.5:c.6806T>CMANE SELECT
  • NP_000129.3:p.Ile2269Thr
  • NP_000129.3:p.Ile2269Thr
  • LRG_778t1:c.6806T>C
  • LRG_778:g.220053T>C
  • LRG_778p1:p.Ile2269Thr
  • NC_000015.9:g.48722933A>G
  • NM_000138.4:c.6806T>C
  • c.6806T>C
Protein change:
I2269T
Links:
dbSNP: rs193922228
NCBI 1000 Genomes Browser:
rs193922228
Molecular consequence:
  • NM_000138.5:c.6806T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ectopia lentis 1, isolated, autosomal dominant (ECTOL1)
Identifiers:
MONDO: MONDO:0007514; MedGen: C3541518; Orphanet: 1885; OMIM: 129600
Name:
Marfan syndrome (MFS)
Synonyms:
MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700
Name:
MASS syndrome (OCTD)
Synonyms:
Overlap connective tissue disease
Identifiers:
MONDO: MONDO:0011431; MedGen: C1858556; OMIM: 604308
Name:
Stiff skin syndrome (SSKS)
Identifiers:
MONDO: MONDO:0008492; MedGen: C1861456; OMIM: 184900
Name:
Weill-Marchesani syndrome 2, dominant
Synonyms:
Weill-Marchesani Syndrome, Autosomal Dominant; Weill-Marchesani syndrome 2; Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
Identifiers:
MONDO: MONDO:0012013; MedGen: C1869115; OMIM: 608328
Name:
Acromicric dysplasia (ACMICD)
Synonyms:
Acromicric skeletal dysplasia
Identifiers:
MONDO: MONDO:0007055; MedGen: C0265287; Orphanet: 969; OMIM: 102370
Name:
Geleophysic dysplasia 2 (GPHYSD2)
Identifiers:
MONDO: MONDO:0013612; MedGen: C3280054; Orphanet: 2623; OMIM: 614185
Name:
Progeroid and marfanoid aspect-lipodystrophy syndrome
Synonyms:
MARFANOID-PROGEROID SYNDROME; MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME; Marfan lipodystrophy syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0014831; MedGen: C4310796; Orphanet: 300382; OMIM: 616914

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000611193Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 18, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Fulgent Genetics, Fulgent Genetics, SCV000611193.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024