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NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) AND Weill-Marchesani syndrome 2, dominant

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 2, 2021
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:
RCV001775090.8

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]
Observations:
1

Condition(s)

Name:
Weill-Marchesani syndrome 2, dominant
Synonyms:
Weill-Marchesani Syndrome, Autosomal Dominant; Weill-Marchesani syndrome 2; Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
Identifiers:
MONDO: MONDO:0012013; MedGen: C1869115; OMIM: 608328

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0020120503billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 2, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical 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 3billion, SCV002012050.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant has been reported multiple times as an established pathogenic variant (ClinVar ID: VCV000200171.11). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024