NM_201525.4(ADGRG1):c.14C>A (p.Ser5Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 27, 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:: RCV003872177.2

Allele description [Variation Report for NM_201525.4(ADGRG1):c.14C>A (p.Ser5Ter)]

NM_201525.4(ADGRG1):c.14C>A (p.Ser5Ter)

Gene:

ADGRG1:adhesion G protein-coupled receptor G1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q21

Genomic location:

Preferred name:

NM_201525.4(ADGRG1):c.14C>A (p.Ser5Ter)

HGVS:

NC_000016.10:g.57650301C>A
NG_011643.1:g.35304C>A
NM_001145770.3:c.14C>A
NM_001145771.3:c.14C>A
NM_001145772.3:c.14C>A
NM_001145773.3:c.14C>A
NM_001145774.3:c.14C>A
NM_001290142.2:c.14C>A
NM_001290143.2:c.-469C>A
NM_001290144.2:c.-469C>A
NM_001370428.1:c.14C>A
NM_001370429.1:c.14C>A
NM_001370430.1:c.14C>A
NM_001370431.1:c.14C>A
NM_001370432.1:c.14C>A
NM_001370433.1:c.14C>A
NM_001370434.1:c.14C>A
NM_001370435.1:c.14C>A
NM_001370436.1:c.14C>A
NM_001370437.1:c.14C>A
NM_001370438.1:c.14C>A
NM_001370439.1:c.14C>A
NM_001370440.1:c.14C>A
NM_001370441.1:c.14C>A
NM_001370442.1:c.14C>A
NM_001370451.1:c.-469C>A
NM_001370453.1:c.-553C>A
NM_001370454.1:c.-414-946C>A
NM_005682.7:c.14C>A
NM_201524.4:c.14C>A
NM_201525.4:c.14C>AMANE SELECT
NP_001139242.1:p.Ser5Ter
NP_001139243.1:p.Ser5Ter
NP_001139244.1:p.Ser5Ter
NP_001139245.1:p.Ser5Ter
NP_001139246.1:p.Ser5Ter
NP_001277071.1:p.Ser5Ter
NP_001357357.1:p.Ser5Ter
NP_001357358.1:p.Ser5Ter
NP_001357359.1:p.Ser5Ter
NP_001357360.1:p.Ser5Ter
NP_001357361.1:p.Ser5Ter
NP_001357362.1:p.Ser5Ter
NP_001357363.1:p.Ser5Ter
NP_001357364.1:p.Ser5Ter
NP_001357365.1:p.Ser5Ter
NP_001357366.1:p.Ser5Ter
NP_001357367.1:p.Ser5Ter
NP_001357368.1:p.Ser5Ter
NP_001357369.1:p.Ser5Ter
NP_001357370.1:p.Ser5Ter
NP_001357371.1:p.Ser5Ter
NP_005673.3:p.Ser5Ter
NP_958932.1:p.Ser5Ter
NP_958933.1:p.Ser5Ter
NC_000016.9:g.57684213C>A

Protein change:

S5*

Molecular consequence:

NM_001290143.2:c.-469C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001290144.2:c.-469C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001370451.1:c.-469C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001370453.1:c.-553C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001370454.1:c.-414-946C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001145770.3:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001145771.3:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001145772.3:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001145773.3:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001145774.3:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001290142.2:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370428.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370429.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370430.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370431.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370432.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370433.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370434.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370435.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370436.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370437.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370438.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370439.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370440.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370441.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001370442.1:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_005682.7:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_201524.4:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_201525.4:c.14C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004683952	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 27, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15044805, 20929962, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004683952

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 27, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

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, SCV004683952.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Ser5*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ADGRG1-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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Relating variation to medicine