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NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 18, 2022
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:
RCV003224675.1

Allele description [Variation Report for NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)]

NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)

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.1964C>T (p.Thr655Ile)
HGVS:
  • NC_000015.10:g.48503936G>A
  • NG_008805.2:g.146853C>T
  • NM_000138.5:c.1964C>TMANE SELECT
  • NM_001406716.1:c.1964C>T
  • NP_000129.3:p.Thr655Ile
  • NP_000129.3:p.Thr655Ile
  • NP_001393645.1:p.Thr655Ile
  • LRG_778t1:c.1964C>T
  • LRG_778:g.146853C>T
  • LRG_778p1:p.Thr655Ile
  • NC_000015.9:g.48796133G>A
  • NM_000138.4:c.1964C>T
Protein change:
T655I
Molecular consequence:
  • NM_000138.5:c.1964C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406716.1:c.1964C>T - 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
SCV003919949Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 18, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV003919949.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational prediction tools suggest that this variant may impact the protein. Additionally, the FBN1 gene has a gnomAD missense constraint z-score of 5.06, suggesting that benign missense variation in FBN1 is uncommon (Lek 2016 PMID: 27535533). In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

Last Updated: Dec 17, 2023