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NM_020806.5(GPHN):c.1328G>A (p.Arg443Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 21, 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:
RCV002544986.2

Allele description [Variation Report for NM_020806.5(GPHN):c.1328G>A (p.Arg443Gln)]

NM_020806.5(GPHN):c.1328G>A (p.Arg443Gln)

Gene:
GPHN:gephyrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q23.3
Genomic location:
Preferred name:
NM_020806.5(GPHN):c.1328G>A (p.Arg443Gln)
HGVS:
  • NC_000014.9:g.67110174G>A
  • NG_008875.1:g.607767G>A
  • NM_001024218.2:c.1229G>A
  • NM_001377514.1:c.1388G>A
  • NM_001377515.1:c.1358G>A
  • NM_001377516.1:c.1349G>A
  • NM_001377517.1:c.1301G>A
  • NM_001377518.1:c.1286G>A
  • NM_001377519.1:c.1268G>A
  • NM_020806.4:c.1328G>A
  • NM_020806.5:c.1328G>AMANE SELECT
  • NP_001019389.1:p.Arg410Gln
  • NP_001364443.1:p.Arg463Gln
  • NP_001364444.1:p.Arg453Gln
  • NP_001364445.1:p.Arg450Gln
  • NP_001364446.1:p.Arg434Gln
  • NP_001364447.1:p.Arg429Gln
  • NP_001364448.1:p.Arg423Gln
  • NP_065857.1:p.Arg443Gln
  • NC_000014.8:g.67576891G>A
Protein change:
R410Q
Links:
dbSNP: rs745338809
NCBI 1000 Genomes Browser:
rs745338809
Molecular consequence:
  • NM_001024218.2:c.1229G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377514.1:c.1388G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377515.1:c.1358G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377516.1:c.1349G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377517.1:c.1301G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377518.1:c.1286G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377519.1:c.1268G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020806.5:c.1328G>A - 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
SCV003582365Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 21, 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, SCV003582365.2

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

Description

The c.1328G>A (p.R443Q) alteration is located in exon 14 (coding exon 14) of the GPHN gene. This alteration results from a G to A substitution at nucleotide position 1328, causing the arginine (R) at amino acid position 443 to be replaced by a glutamine (Q). 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: Sep 29, 2024