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NM_001098200.2(GPR18):c.104T>C (p.Ile35Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 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:
RCV004350224.1

Allele description [Variation Report for NM_001098200.2(GPR18):c.104T>C (p.Ile35Thr)]

NM_001098200.2(GPR18):c.104T>C (p.Ile35Thr)

Genes:
GPR18:G protein-coupled receptor 18 [Gene - OMIM - HGNC]
UBAC2:UBA domain containing 2 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q32.3
Genomic location:
Preferred name:
NM_001098200.2(GPR18):c.104T>C (p.Ile35Thr)
HGVS:
  • NC_000013.11:g.99255769A>G
  • NM_001098200.2:c.104T>CMANE SELECT
  • NM_001144072.2:c.389+11145A>GMANE SELECT
  • NM_005292.4:c.104T>C
  • NM_177967.4:c.284+17215A>G
  • NP_001091670.1:p.Ile35Thr
  • NP_005283.1:p.Ile35Thr
  • NC_000013.10:g.99908023A>G
  • NM_005292.3:c.104T>C
Protein change:
I35T
Molecular consequence:
  • NM_001144072.2:c.389+11145A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_177967.4:c.284+17215A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001098200.2:c.104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005292.4:c.104T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004073670Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 14, 2023) 		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, SCV004073670.2

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

Description

The c.104T>C (p.I35T) alteration is located in exon 3 (coding exon 1) of the GPR18 gene. This alteration results from a T to C substitution at nucleotide position 104, causing the isoleucine (I) at amino acid position 35 to be replaced by a threonine (T). 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: Nov 10, 2024