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NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000755199.8

Allele description [Variation Report for NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)]

NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)

Genes:
LOC126862124:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 [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.4270C>G (p.Pro1424Ala)
Other names:
p.P1424A:CCA>GCA
HGVS:
  • NC_000015.10:g.48472617G>C
  • NG_008805.2:g.178172C>G
  • NM_000138.5:c.4270C>GMANE SELECT
  • NP_000129.3:p.Pro1424Ala
  • NP_000129.3:p.Pro1424Ala
  • LRG_778t1:c.4270C>G
  • LRG_778:g.178172C>G
  • LRG_778p1:p.Pro1424Ala
  • NC_000015.9:g.48764814G>C
  • NM_000138.4:c.4270C>G
  • c.4270C>G
Protein change:
P1424A
Links:
dbSNP: rs201273753
NCBI 1000 Genomes Browser:
rs201273753
Molecular consequence:
  • NM_000138.5:c.4270C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital aneurysm of ascending aorta (AAT1)
Synonyms:
AORTIC ANEURYSM, FAMILIAL THORACIC 1; ANNULOAORTIC ECTASIA; Familial aortic dissection; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0024559; MedGen: C0345050; Orphanet: 229; OMIM: 607086
Name:
Acute aortic dissection
Identifiers:
MedGen: C0241868

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000883028University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Uncertain significance
(Jan 20, 2016) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.

Regalado ES, Guo DC, Santos-Cortez RL, Hostetler E, Bensend TA, Pannu H, Estrera A, Safi H, Mitchell AL, Evans JP, Leal SM, Bamshad M, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Milewicz DM.

Clin Genet. 2016 Jun;89(6):719-23. doi: 10.1111/cge.12702. Epub 2016 Jan 20.

PubMed [citation]
PMID:
26621581
PMCID:
PMC4873375

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000883028.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 13, 2025