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NM_001177676.2(GPR68):c.307G>A (p.Glu103Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 22, 2022
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:
RCV004073934.1

Allele description [Variation Report for NM_001177676.2(GPR68):c.307G>A (p.Glu103Lys)]

NM_001177676.2(GPR68):c.307G>A (p.Glu103Lys)

Gene:
GPR68:G protein-coupled receptor 68 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.11
Genomic location:
Preferred name:
NM_001177676.2(GPR68):c.307G>A (p.Glu103Lys)
HGVS:
  • NC_000014.9:g.91234744C>T
  • NG_052988.1:g.24137G>A
  • NG_052988.2:g.41046G>A
  • NM_001177676.2:c.307G>AMANE SELECT
  • NM_001348437.1:c.307G>A
  • NM_003485.3:c.307G>A
  • NP_001171147.1:p.Glu103Lys
  • NP_001335366.1:p.Glu103Lys
  • NP_003476.3:p.Glu103Lys
  • NC_000014.8:g.91701088C>T
Protein change:
E103K
Molecular consequence:
  • NM_001177676.2:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348437.1:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003485.3:c.307G>A - 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
SCV003529857Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 22, 2022) 		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, SCV003529857.2

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

Description

The c.307G>A (p.E103K) alteration is located in exon 2 (coding exon 1) of the GPR68 gene. This alteration results from a G to A substitution at nucleotide position 307, causing the glutamic acid (E) at amino acid position 103 to be replaced by a lysine (K). 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 3, 2024