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

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 2, 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:: RCV000035170.16

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:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000058812	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Jan 2, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 10533071, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000058812

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Jan 2, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1.

Yuan B, Thomas JP, von Kodolitsch Y, Pyeritz RE.

Hum Mutat. 1999;14(5):440-6.

PubMed [citation]

PMID:: 10533071

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000058812.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

The p.Pro1141Leu variant in FBN1 is classified as benign because it has been ide ntified in 1.8% of Ashkenazi Jewish chromosomes by gnomAD. ACMG/AMP Criteria app lied: BA1.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine