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NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2014)
Last evaluated:
Dec 1, 2014
Accession:
VCV000183327.1
Variation ID:
183327
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp)

Allele ID
181416
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128408688 (GRCh38) GRCh38 UCSC
5: 127744381 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128408688C>T
NC_000005.9:g.127744381C>T
NG_008750.1:g.134355G>A
NM_001999.4:c.1064G>A MANE Select NP_001990.2:p.Gly355Asp missense
Protein change
G355D
Other names
-
Canonical SPDI
NC_000005.10:128408687:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA186065
dbSNP: rs730882230
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Dec 1, 2014 RCV000162150.1
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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
Likely pathogenic
(Dec 01, 2014)
no assertion criteria provided
()
Method: research
Neonatal death
Fetal akinesia
Cerebral ischemia
Allele origin: germline
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
Accession: SCV000196436.1
Submitted: (Dec 30, 2014)
Evidence details
Publications
PubMed (1)

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
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Alazami AM Cell reports 2015 PMID: 25558065

Text-mined citations for rs730882230...

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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