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NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 14, 2018)
Last evaluated:
Oct 31, 2018
Accession:
VCV000528397.1
Variation ID:
528397
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)

Allele ID
520509
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128259750 (GRCh38) GRCh38 UCSC
5: 127595442 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128259750T>G
NC_000005.9:g.127595442T>G
NG_008750.1:g.283294A>C
NM_001999.4:c.8444A>C MANE Select NP_001990.2:p.Lys2815Thr missense
Protein change
K2815T
Other names
-
Canonical SPDI
NC_000005.10:128259749:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00006
Links
ClinGen: CA3393803
dbSNP: rs757028268
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2018 RCV000633580.2
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765796.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FBN2 - - GRCh38
GRCh37
1735 1754

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Invitae
Accession: SCV000754826.2
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces lysine with threonine at codon 2815 of the FBN2 protein (p.Lys2815Thr). The lysine residue is highly conserved and there is a … (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Macular degeneration, early-onset
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000897186.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
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 Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs757028268...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021