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NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) AND not provided

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Jul 1, 2024
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:
RCV001703450.18

Allele description [Variation Report for NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)]

NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)

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.3422C>T (p.Pro1141Leu)
Other names:
p.P1141L:CCG>CTG; NM_000138.5(FBN1):c.3422C>T
HGVS:
  • NC_000015.10:g.48487353G>A
  • NG_008805.2:g.163436C>T
  • NM_000138.5:c.3422C>TMANE SELECT
  • NP_000129.3:p.Pro1141Leu
  • NP_000129.3:p.Pro1141Leu
  • LRG_778t1:c.3422C>T
  • LRG_778:g.163436C>T
  • LRG_778p1:p.Pro1141Leu
  • NC_000015.9:g.48779550G>A
  • NM_000138.4:c.3422C>T
  • c.3422C>T
Protein change:
P1141L
Links:
dbSNP: rs2228241
NCBI 1000 Genomes Browser:
rs2228241
Molecular consequence:
  • NM_000138.5:c.3422C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
17

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000233788GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Dec 29, 2020)
germlineclinical testing

Citation Link,

SCV004129814CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Benign
(Jul 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes17not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000233788.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 25812041, 26188975, 10533071, 24941995, 24740214, 27153395, 25203624)

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

From CeGaT Center for Human Genetics Tuebingen, SCV004129814.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided17not providednot providedclinical testingnot provided

Description

FBN1: BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided17not providednot providednot provided

Last Updated: Nov 24, 2024