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NM_002062.5(GLP1R):c.32C>A (p.Ala11Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 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:
RCV004111362.1

Allele description [Variation Report for NM_002062.5(GLP1R):c.32C>A (p.Ala11Glu)]

NM_002062.5(GLP1R):c.32C>A (p.Ala11Glu)

Gene:
GLP1R:glucagon like peptide 1 receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.2
Genomic location:
Preferred name:
NM_002062.5(GLP1R):c.32C>A (p.Ala11Glu)
HGVS:
  • NC_000006.12:g.39048872C>A
  • NM_002062.5:c.32C>AMANE SELECT
  • NP_002053.3:p.Ala11Glu
  • NC_000006.11:g.39016648C>A
  • NM_002062.3:c.32C>A
  • NR_136562.2:n.92C>A
  • NR_136563.2:n.92C>A
Protein change:
A11E
Molecular consequence:
  • NM_002062.5:c.32C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136562.2:n.92C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136563.2:n.92C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003578561Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 16, 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, SCV003578561.2

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

Description

The c.32C>A (p.A11E) alteration is located in exon 1 (coding exon 1) of the GLP1R gene. This alteration results from a C to A substitution at nucleotide position 32, causing the alanine (A) at amino acid position 11 to be replaced by a glutamic acid (E). 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