U.S. flag

An official website of the United States government

NM_000138.5(FBN1):c.4120T>G (p.Cys1374Gly) AND Marfan syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Nov 10, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002226556.3

Allele description [Variation Report for NM_000138.5(FBN1):c.4120T>G (p.Cys1374Gly)]

NM_000138.5(FBN1):c.4120T>G (p.Cys1374Gly)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Preferred name:
NM_000138.5(FBN1):c.4120T>G (p.Cys1374Gly)
HGVS:
  • NC_000015.10:g.48474345A>C
  • NG_008805.2:g.176444T>G
  • NM_000138.5:c.4120T>GMANE SELECT
  • NP_000129.3:p.Cys1374Gly
  • LRG_778t1:c.4120T>G
  • LRG_778:g.176444T>G
  • NC_000015.9:g.48766542A>C
  • NM_000138.4:c.4120T>G
Protein change:
C1374G
Links:
dbSNP: rs2141279837

Condition(s)

Name:
Marfan syndrome (MFS)
Synonyms:
MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700

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
SCV002025302Centre of Medical Genetics, University of Antwerp
criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Mar 1, 2021) 		unknownresearch

Citation Link,

SCV002505570Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 10, 2022) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

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 Centre of Medical Genetics, University of Antwerp, SCV002025302.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

PM2, PVS2, PP4

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

From Institute of Human Genetics, University of Leipzig Medical Center, SCV002505570.2

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

Description

Criteria applied: PM5_STR,PM1,PS4_SUP,PM2_SUP,PP3,PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024