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NM_004484.4(GPC3):c.941A>G (p.Tyr314Cys) AND Wilms tumor 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 24, 2023
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:
RCV000687666.6

Allele description

NM_004484.4(GPC3):c.941A>G (p.Tyr314Cys)

Gene:
GPC3:glypican 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq26.2
Genomic location:
Preferred name:
NM_004484.4(GPC3):c.941A>G (p.Tyr314Cys)
HGVS:
  • NC_000023.11:g.133753573T>C
  • NG_009286.1:g.237067A>G
  • NM_001164617.2:c.941A>G
  • NM_001164618.2:c.893A>G
  • NM_001164619.2:c.779A>G
  • NM_004484.4:c.941A>GMANE SELECT
  • NP_001158089.1:p.Tyr314Cys
  • NP_001158090.1:p.Tyr298Cys
  • NP_001158091.1:p.Tyr260Cys
  • NP_004475.1:p.Tyr314Cys
  • NP_004475.1:p.Tyr314Cys
  • LRG_505t1:c.941A>G
  • LRG_505:g.237067A>G
  • LRG_505p1:p.Tyr314Cys
  • NC_000023.10:g.132887600T>C
  • NM_004484.3:c.941A>G
Protein change:
Y260C
Links:
dbSNP: rs1569426081
NCBI 1000 Genomes Browser:
rs1569426081
Molecular consequence:
  • NM_001164617.2:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164618.2:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164619.2:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004484.4:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Wilms tumor 1 (WT1)
Synonyms:
Wilms tumor, somatic
Identifiers:
MONDO: MONDO:0008679; MedGen: CN033288; Orphanet: 654; OMIM: 194070

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000815250Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 24, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000815250.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 314 of the GPC3 protein (p.Tyr314Cys). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GPC3 protein function. ClinVar contains an entry for this variant (Variation ID: 567548). This variant has not been reported in the literature in individuals affected with GPC3-related conditions. This variant is not present in population databases (gnomAD no frequency).

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

Last Updated: Jun 9, 2024