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NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 2021
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:
RCV001193543.2

Allele description [Variation Report for NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu)]

NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu)

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.2813C>T (p.Pro938Leu)
HGVS:
  • NC_000015.10:g.48492502G>A
  • NG_008805.2:g.158287C>T
  • NM_000138.5:c.2813C>TMANE SELECT
  • NP_000129.3:p.Pro938Leu
  • NP_000129.3:p.Pro938Leu
  • LRG_778t1:c.2813C>T
  • LRG_778:g.158287C>T
  • LRG_778p1:p.Pro938Leu
  • NC_000015.9:g.48784699G>A
  • NM_000138.4:c.2813C>T
Protein change:
P938L
Links:
dbSNP: rs758257941
NCBI 1000 Genomes Browser:
rs758257941
Molecular consequence:
  • NM_000138.5:c.2813C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001362443Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(May 17, 2021) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Abiraterone treatment in castration-resistant prostate cancer selects for progesterone responsive mutant androgen receptors.

Chen EJ, Sowalsky AG, Gao S, Cai C, Voznesensky O, Schaefer R, Loda M, True LD, Ye H, Troncoso P, Lis RL, Kantoff PW, Montgomery RB, Nelson PS, Bubley GJ, Balk SP, Taplin ME.

Clin Cancer Res. 2015 Mar 15;21(6):1273-80. doi: 10.1158/1078-0432.CCR-14-1220. Epub 2014 Oct 15.

PubMed [citation]
PMID:
25320358
PMCID:
PMC4359958

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001362443.2

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

Description

Variant summary: FBN1 c.2813C>T (p.Pro938Leu) results in a non-conservative amino acid change located in the EGF-like domain (IPR000742) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251468 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2813C>T in individuals affected with Marfan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024