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NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 14, 2016
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:
RCV000196474.10

Allele description [Variation Report for NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)]

NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)

Gene:
FBN2:fibrillin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.3
Genomic location:
Preferred name:
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)
HGVS:
  • NC_000005.10:g.128330672T>C
  • NG_008750.1:g.212372A>G
  • NM_001999.4:c.4246A>GMANE SELECT
  • NP_001990.2:p.Thr1416Ala
  • NC_000005.9:g.127666364T>C
  • NM_001999.3:c.4246A>G
  • P35556:p.Thr1416Ala
  • p.T1416A
Protein change:
T1416A
Links:
UniProtKB: P35556#VAR_072655; dbSNP: rs200837433
NCBI 1000 Genomes Browser:
rs200837433
Molecular consequence:
  • NM_001999.4:c.4246A>G - 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
SCV000250293GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 14, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000250293.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The T1416A variant in the FBN2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T1416A variant was observed on 0.27% alleles from individuals of Finnish background in the Exome Aggregation Consortium (ExAC) data set. The T1416A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T1416A as a variant of uncertain significance.

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

Last Updated: Nov 3, 2024