NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Apr 29, 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:: RCV000181674.20

Allele description [Variation Report for NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)]

NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)

HGVS:

NC_000015.10:g.48427731_48427732del
NG_008805.2:g.223057_223058del
NM_000138.5:c.7039_7040delMANE SELECT
NP_000129.3:p.Met2347fs
LRG_778t1:c.7039_7040del
LRG_778:g.223057_223058del
NC_000015.9:g.48719928_48719929del
NM_000138.4:c.7039_7040del
NM_000138.4:c.7039_7040delAT
NM_000138.5:c.7039_7040delATMANE SELECT
p.M2347VfsX19
p.Met2347ValfsTer19
p.Met2347fs

Links:

dbSNP: rs794728319

NCBI 1000 Genomes Browser:

rs794728319

Molecular consequence:

NM_000138.5:c.7039_7040del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000233977	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 29, 2022)	germline	clinical testing	Citation Link,
SCV000885431	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Pathogenic (Sep 16, 2017)	germline	clinical testing	Citation Link,
SCV001760720	Laboratoire Génétique Moléculaire, CHRU TOURS	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 23, 2020)	paternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000233977

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Apr 29, 2022)

germline

clinical testing

Citation Link,

SCV000885431

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Pathogenic
(Sep 16, 2017)

germline

clinical testing

Citation Link,

SCV001760720

Laboratoire Génétique Moléculaire, CHRU TOURS

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 23, 2020)

paternal

clinical testing

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

Help

Summary from all submissions

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

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 GeneDx, SCV000233977.15

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29357934, 11826022, 25101912, 27112580, 17627385, 19863550, 26272055, 17657824, 19618372, 18435798, 29543232, 33436942, 32679894, 34008892, 26621581)

#	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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885431.1

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

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

From Laboratoire Génétique Moléculaire, CHRU TOURS, SCV001760720.1

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

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

Last Updated: May 26, 2024

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