NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Aug 18, 2014
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:: RCV000150701.13

Allele description [Variation Report for NM_000138.5(FBN1):c.3675G>A (p.Pro1225=)]

NM_000138.5(FBN1):c.3675G>A (p.Pro1225=)

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.3675G>A (p.Pro1225=)

Other names:

p.P1225P:CCG>CCA

HGVS:

NC_000015.10:g.48485411C>T
NG_008805.2:g.165378G>A
NM_000138.5:c.3675G>AMANE SELECT
NP_000129.3:p.Pro1225=
NP_000129.3:p.Pro1225=
LRG_778t1:c.3675G>A
LRG_778:g.165378G>A
LRG_778p1:p.Pro1225=
NC_000015.9:g.48777608C>T
NM_000138.4:c.3675G>A

Links:

dbSNP: rs148147223

NCBI 1000 Genomes Browser:

rs148147223

Molecular consequence:

NM_000138.5:c.3675G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000168446	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Feb 6, 2014)	germline	clinical testing	Citation Link,
SCV000198085	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Aug 18, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 10189222, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000168446

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Feb 6, 2014)

germline

clinical testing

Citation Link,

SCV000198085

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Aug 18, 2014)

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	2	2	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

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 GeneDx, SCV000168446.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000198085.4

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

Description

Pro1225Pro in exon 29 of FBN1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 1.1% (49/4396) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs148147223).

#	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		2	not provided	2	not provided

Last Updated: Nov 10, 2024

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