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NM_198576.4(AGRN):c.4636G>T (p.Gly1546Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 20, 2021
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:
RCV002729419.2

Allele description [Variation Report for NM_198576.4(AGRN):c.4636G>T (p.Gly1546Cys)]

NM_198576.4(AGRN):c.4636G>T (p.Gly1546Cys)

Gene:
AGRN:agrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NM_198576.4(AGRN):c.4636G>T (p.Gly1546Cys)
HGVS:
  • NC_000001.11:g.1049687G>T
  • NG_016346.1:g.34565G>T
  • NM_001305275.2:c.4636G>T
  • NM_001364727.2:c.4321G>T
  • NM_198576.4:c.4636G>TMANE SELECT
  • NP_001292204.1:p.Gly1546Cys
  • NP_001351656.1:p.Gly1441Cys
  • NP_940978.2:p.Gly1546Cys
  • NP_940978.2:p.Gly1546Cys
  • LRG_198t1:c.4636G>T
  • LRG_198:g.34565G>T
  • LRG_198p1:p.Gly1546Cys
  • NC_000001.10:g.985067G>T
  • NM_198576.2:c.4636G>T
  • NM_198576.3:c.4636G>T
Protein change:
G1441C
Molecular consequence:
  • NM_001305275.2:c.4636G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364727.2:c.4321G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198576.4:c.4636G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003574367Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 20, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003574367.2

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

Description

The c.4636G>T (p.G1546C) alteration is located in exon 26 (coding exon 26) of the AGRN gene. This alteration results from a G to T substitution at nucleotide position 4636, causing the glycine (G) at amino acid position 1546 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024