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NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 29, 2015
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:
RCV000252999.1

Allele description

NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)

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.6302C>T (p.Thr2101Met)
HGVS:
  • NC_000015.10:g.48437779G>A
  • NG_008805.2:g.213010C>T
  • NM_000138.5:c.6302C>TMANE SELECT
  • NP_000129.3:p.Thr2101Met
  • NP_000129.3:p.Thr2101Met
  • LRG_778t1:c.6302C>T
  • LRG_778:g.213010C>T
  • LRG_778p1:p.Thr2101Met
  • NC_000015.9:g.48729976G>A
  • NM_000138.4:c.6302C>T
Protein change:
T2101M
Links:
dbSNP: rs200816828
NCBI 1000 Genomes Browser:
rs200816828
Molecular consequence:
  • NM_000138.5:c.6302C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000319607Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Dec 29, 2015) 		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 providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Türkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN.

Hum Mutat. 2002 Sep;20(3):197-208.

PubMed [citation]
PMID:
12203992

Details of each submission

From Ambry Genetics, SCV000319607.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.T2101M variant (also known as c.6302C>T), located in coding exon 50 of the FBN1 gene, results from a C to T substitution at nucleotide position 6302. The threonine at codon 2101 is replaced by methionine, an amino acid with similar properties. According to a study of individuals with Marfan syndrome and related features, this variantdidnot segregatewith disease in one family, though details were limited(Katzkeet al.HumMutat.2002;20(3):197-208).This variant was previously reported in the SNPDatabase as rs200816828.Based on data fromExAC, the T allele has an overall frequency of approximately 0.02% (24/120734). The highest observed frequency was 0.1% (16/11388) of Latino alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed December 29, 2015]). Based on data from the 1000 Genomes Project, the T allele has an overall frequency of approximately 0.05% (1/2098) total alleles studied. The highest observed frequency was 0.91% (1/110) Puerto Rican alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.01% (1/12988) total alleles studied, having been observed in 0.02% (1/4396) African American alleles. This amino acid position is well conserved in mammals but not in all available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis.Since supporting evidence is limited at this time, the clinical significance of this variantremains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 5, 2022