U.S. flag

An official website of the United States government

NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) AND not specified

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Aug 16, 2019
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:
RCV000035171.16

Allele description [Variation Report for NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)]

NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)

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.3423G>A (p.Pro1141=)
HGVS:
  • NC_000015.10:g.48487352C>T
  • NG_008805.2:g.163437G>A
  • NM_000138.5:c.3423G>AMANE SELECT
  • NP_000129.3:p.Pro1141=
  • NP_000129.3:p.Pro1141=
  • LRG_778t1:c.3423G>A
  • LRG_778:g.163437G>A
  • LRG_778p1:p.Pro1141=
  • NC_000015.9:g.48779549C>T
  • NM_000138.4:c.3423G>A
  • c.3423G>A
  • p.Pro1141Pro
Links:
dbSNP: rs140396599
NCBI 1000 Genomes Browser:
rs140396599
Molecular consequence:
  • NM_000138.5:c.3423G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000058813Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
no assertion criteria provided
Uncertain significance
(Sep 15, 2008) 		germlineclinical testing

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

SCV001362387Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Aug 16, 2019) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief no. 211. Online.

Perez AB, Pereira LV, Brunoni D, Zatz M, Passos-Bueno MR.

Hum Mutat. 1999;13(1):84.

PubMed [citation]
PMID:
10189222

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000058813.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001362387.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 19, 2025