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NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 2023
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:
RCV001293526.4

Allele description [Variation Report for NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)]

NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)

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.4190G>T (p.Gly1397Val)
HGVS:
  • NC_000015.10:g.48474275C>A
  • NG_008805.2:g.176514G>T
  • NM_000138.5:c.4190G>TMANE SELECT
  • NP_000129.3:p.Gly1397Val
  • LRG_778t1:c.4190G>T
  • LRG_778:g.176514G>T
  • NC_000015.9:g.48766472C>A
  • NM_000138.4:c.4190G>T
Protein change:
G1397V
Links:
dbSNP: rs747867726
NCBI 1000 Genomes Browser:
rs747867726
Molecular consequence:
  • NM_000138.5:c.4190G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001482117Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jan 23, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.

Baudhuin LM, Kotzer KE, Lagerstedt SA.

J Hum Genet. 2015 May;60(5):241-52. doi: 10.1038/jhg.2015.10. Epub 2015 Feb 5.

PubMed [citation]
PMID:
25652356

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001482117.3

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

Description

Variant summary: FBN1 c.4190G>T (p.Gly1397Val) results in a non-conservative amino acid change located in the EGF-like domain (IPR000742) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251380 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4190G>T has been reported in the literature in a cohort of suspected or confirmed MFS patients, without strong evidence for causality (Baudhuin_2015). To our knowledge, no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024