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NM_000406.3(GNRHR):c.189G>C (p.Trp63Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 2017
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:
RCV000523656.1

Allele description [Variation Report for NM_000406.3(GNRHR):c.189G>C (p.Trp63Cys)]

NM_000406.3(GNRHR):c.189G>C (p.Trp63Cys)

Gene:
GNRHR:gonadotropin releasing hormone receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q13.2
Genomic location:
Preferred name:
NM_000406.3(GNRHR):c.189G>C (p.Trp63Cys)
HGVS:
  • NC_000004.12:g.67754147C>G
  • NG_009293.1:g.6940G>C
  • NM_000406.3:c.189G>CMANE SELECT
  • NM_001012763.2:c.189G>C
  • NP_000397.1:p.Trp63Cys
  • NP_000397.1:p.Trp63Cys
  • NP_001012781.1:p.Trp63Cys
  • NC_000004.11:g.68619865C>G
  • NM_000406.2:c.189G>C
Protein change:
W63C
Links:
dbSNP: rs138926430
NCBI 1000 Genomes Browser:
rs138926430
Molecular consequence:
  • NM_000406.3:c.189G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001012763.2:c.189G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000619725GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 2, 2017) 		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, SCV000619725.1

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

Description

The W63C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). W63C 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; however, in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Apr 23, 2022