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NM_018971.3(GPR27):c.18G>T (p.Glu6Asp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 9, 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:
RCV004111222.1

Allele description [Variation Report for NM_018971.3(GPR27):c.18G>T (p.Glu6Asp)]

NM_018971.3(GPR27):c.18G>T (p.Glu6Asp)

Genes:
GPR27:G protein-coupled receptor 27 [Gene - OMIM - HGNC]
EIF4E3:eukaryotic translation initiation factor 4E family member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p13
Genomic location:
Preferred name:
NM_018971.3(GPR27):c.18G>T (p.Glu6Asp)
HGVS:
  • NC_000003.12:g.71754067G>T
  • NM_001134649.3:c.-291+148C>A
  • NM_018971.3:c.18G>TMANE SELECT
  • NM_173359.5:c.-291+577C>A
  • NP_061844.1:p.Glu6Asp
  • NC_000003.11:g.71803218G>T
  • NM_018971.1:c.18G>T
Protein change:
E6D
Molecular consequence:
  • NM_001134649.3:c.-291+148C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_173359.5:c.-291+577C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_018971.3:c.18G>T - 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
SCV003578889Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 9, 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, SCV003578889.2

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

Description

The c.18G>T (p.E6D) alteration is located in exon 1 (coding exon 1) of the GPR27 gene. This alteration results from a G to T substitution at nucleotide position 18, causing the glutamic acid (E) at amino acid position 6 to be replaced by an aspartic acid (D). 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