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NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 30, 2023
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:
RCV003480638.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser)]

NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser)

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.4166G>C (p.Cys1389Ser)
Other names:
p.Cys1389Ser
HGVS:
  • NC_000015.10:g.48474299C>G
  • NG_008805.2:g.176490G>C
  • NM_000138.5:c.4166G>CMANE SELECT
  • NP_000129.3:p.Cys1389Ser
  • NP_000129.3:p.Cys1389Ser
  • LRG_778t1:c.4166G>C
  • LRG_778:g.176490G>C
  • LRG_778p1:p.Cys1389Ser
  • NC_000015.9:g.48766496C>G
  • NM_000138.4:c.4166G>C
Protein change:
C1389S
Links:
dbSNP: rs1060501026
NCBI 1000 Genomes Browser:
rs1060501026
Molecular consequence:
  • NM_000138.5:c.4166G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004226886Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 30, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.

Tan L, Li Z, Zhou C, Cao Y, Zhang L, Li X, Cianflone K, Wang Y, Wang DW.

Hum Mol Genet. 2017 Dec 15;26(24):4814-4822. doi: 10.1093/hmg/ddx360.

PubMed [citation]
PMID:
28973303

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 Mayo Clinic Laboratories, Mayo Clinic, SCV004226886.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

PP2, PP3, PM1_strong, PM2, PS4_supporting

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

Last Updated: Nov 10, 2024