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NM_201525.4(ADGRG1):c.37del (p.Leu13fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 5, 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:
RCV001909008.4

Allele description [Variation Report for NM_201525.4(ADGRG1):c.37del (p.Leu13fs)]

NM_201525.4(ADGRG1):c.37del (p.Leu13fs)

Gene:
ADGRG1:adhesion G protein-coupled receptor G1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q21
Genomic location:
Preferred name:
NM_201525.4(ADGRG1):c.37del (p.Leu13fs)
HGVS:
  • NC_000016.10:g.57650324del
  • NG_011643.1:g.35327del
  • NM_001145770.3:c.37del
  • NM_001145771.3:c.37del
  • NM_001145772.3:c.37del
  • NM_001145773.3:c.37del
  • NM_001145774.3:c.37del
  • NM_001290142.2:c.37del
  • NM_001290143.2:c.-446del
  • NM_001290144.2:c.-446del
  • NM_001370428.1:c.37del
  • NM_001370429.1:c.37del
  • NM_001370430.1:c.37del
  • NM_001370431.1:c.37del
  • NM_001370432.1:c.37del
  • NM_001370433.1:c.37del
  • NM_001370434.1:c.37del
  • NM_001370435.1:c.37del
  • NM_001370436.1:c.37del
  • NM_001370437.1:c.37del
  • NM_001370438.1:c.37del
  • NM_001370439.1:c.37del
  • NM_001370440.1:c.37del
  • NM_001370441.1:c.37del
  • NM_001370442.1:c.37del
  • NM_001370451.1:c.-446del
  • NM_001370453.1:c.-530del
  • NM_001370454.1:c.-414-923del
  • NM_005682.7:c.37del
  • NM_201524.4:c.37del
  • NM_201525.4:c.37delMANE SELECT
  • NP_001139242.1:p.Leu13fs
  • NP_001139243.1:p.Leu13fs
  • NP_001139244.1:p.Leu13fs
  • NP_001139245.1:p.Leu13fs
  • NP_001139246.1:p.Leu13fs
  • NP_001277071.1:p.Leu13fs
  • NP_001357357.1:p.Leu13fs
  • NP_001357358.1:p.Leu13fs
  • NP_001357359.1:p.Leu13fs
  • NP_001357360.1:p.Leu13fs
  • NP_001357361.1:p.Leu13fs
  • NP_001357362.1:p.Leu13fs
  • NP_001357363.1:p.Leu13fs
  • NP_001357364.1:p.Leu13fs
  • NP_001357365.1:p.Leu13fs
  • NP_001357366.1:p.Leu13fs
  • NP_001357367.1:p.Leu13fs
  • NP_001357368.1:p.Leu13fs
  • NP_001357369.1:p.Leu13fs
  • NP_001357370.1:p.Leu13fs
  • NP_001357371.1:p.Leu13fs
  • NP_005673.3:p.Leu13fs
  • NP_958932.1:p.Leu13fs
  • NP_958933.1:p.Leu13fs
  • NC_000016.9:g.57684235del
  • NC_000016.9:g.57684236del
Protein change:
L13fs
Links:
dbSNP: rs2148183874
NCBI 1000 Genomes Browser:
rs2148183874
Molecular consequence:
  • NM_001290143.2:c.-446del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001290144.2:c.-446del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001370451.1:c.-446del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001370453.1:c.-530del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001145770.3:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145771.3:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145772.3:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145773.3:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145774.3:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001290142.2:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370428.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370429.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370430.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370431.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370432.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370433.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370434.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370435.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370436.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370437.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370438.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370439.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370440.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370441.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370442.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005682.7:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_201524.4:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_201525.4:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370454.1:c.-414-923del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002169841Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 5, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

G protein-coupled receptor-dependent development of human frontal cortex.

Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Déscarie JC, Barkovich AJ, Walsh CA.

Science. 2004 Mar 26;303(5666):2033-6.

PubMed [citation]
PMID:
15044805

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J.

Brain. 2010 Nov;133(11):3194-209. doi: 10.1093/brain/awq259. Epub 2010 Oct 7.

PubMed [citation]
PMID:
20929962
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002169841.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ADGRG1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu13Cysfs*2) in the ADGRG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRG1 are known to be pathogenic (PMID: 15044805, 20929962).

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

Last Updated: Sep 29, 2024