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NM_198576.4(AGRN):c.3697C>T (p.Arg1233Trp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 27, 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:
RCV000438400.1

Allele description [Variation Report for NM_198576.4(AGRN):c.3697C>T (p.Arg1233Trp)]

NM_198576.4(AGRN):c.3697C>T (p.Arg1233Trp)

Gene:
AGRN:agrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NM_198576.4(AGRN):c.3697C>T (p.Arg1233Trp)
HGVS:
  • NC_000001.11:g.1047841C>T
  • NG_016346.1:g.32719C>T
  • NM_001305275.2:c.3697C>T
  • NM_001364727.2:c.3382C>T
  • NM_198576.4:c.3697C>TMANE SELECT
  • NP_001292204.1:p.Arg1233Trp
  • NP_001351656.1:p.Arg1128Trp
  • NP_940978.2:p.Arg1233Trp
  • LRG_198:g.32719C>T
  • NC_000001.10:g.983221C>T
  • NM_198576.3:c.3697C>T
Protein change:
R1128W
Links:
dbSNP: rs147673996
NCBI 1000 Genomes Browser:
rs147673996
Molecular consequence:
  • NM_001305275.2:c.3697C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364727.2:c.3382C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198576.4:c.3697C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000532953GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 27, 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, SCV000532953.3

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

Description

The R1233W variant in the AGRN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1233W variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry by the NHLBI Exome Sequencing Project. The R1233W 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 not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R1233W as a variant of uncertain significance.

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

Last Updated: Sep 29, 2024