NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Jan 29, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000711839.15

Allele description

NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu)

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>T (p.Ser5Leu)

HGVS:

NC_000016.10:g.57650301C>T
NG_011643.1:g.35304C>T
NM_001145770.3:c.14C>T
NM_001145771.3:c.14C>T
NM_001145772.3:c.14C>T
NM_001145773.3:c.14C>T
NM_001145774.3:c.14C>T
NM_001290142.2:c.14C>T
NM_001290143.2:c.-469C>T
NM_001290144.2:c.-469C>T
NM_001370428.1:c.14C>T
NM_001370429.1:c.14C>T
NM_001370430.1:c.14C>T
NM_001370431.1:c.14C>T
NM_001370432.1:c.14C>T
NM_001370433.1:c.14C>T
NM_001370434.1:c.14C>T
NM_001370435.1:c.14C>T
NM_001370436.1:c.14C>T
NM_001370437.1:c.14C>T
NM_001370438.1:c.14C>T
NM_001370439.1:c.14C>T
NM_001370440.1:c.14C>T
NM_001370441.1:c.14C>T
NM_001370442.1:c.14C>T
NM_001370451.1:c.-469C>T
NM_001370453.1:c.-553C>T
NM_001370454.1:c.-414-946C>T
NM_005682.7:c.14C>T
NM_201524.4:c.14C>T
NM_201525.4:c.14C>TMANE SELECT
NP_001139242.1:p.Ser5Leu
NP_001139243.1:p.Ser5Leu
NP_001139244.1:p.Ser5Leu
NP_001139245.1:p.Ser5Leu
NP_001139246.1:p.Ser5Leu
NP_001277071.1:p.Ser5Leu
NP_001357357.1:p.Ser5Leu
NP_001357358.1:p.Ser5Leu
NP_001357359.1:p.Ser5Leu
NP_001357360.1:p.Ser5Leu
NP_001357361.1:p.Ser5Leu
NP_001357362.1:p.Ser5Leu
NP_001357363.1:p.Ser5Leu
NP_001357364.1:p.Ser5Leu
NP_001357365.1:p.Ser5Leu
NP_001357366.1:p.Ser5Leu
NP_001357367.1:p.Ser5Leu
NP_001357368.1:p.Ser5Leu
NP_001357369.1:p.Ser5Leu
NP_001357370.1:p.Ser5Leu
NP_001357371.1:p.Ser5Leu
NP_005673.3:p.Ser5Leu
NP_958932.1:p.Ser5Leu
NP_958933.1:p.Ser5Leu
NC_000016.9:g.57684213C>T
NM_005682.5:c.14C>T

Protein change:

S5L

Links:

dbSNP: rs147879224

NCBI 1000 Genomes Browser:

rs147879224

Molecular consequence:

NM_001290143.2:c.-469C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001290144.2:c.-469C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001370451.1:c.-469C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001370453.1:c.-553C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001370454.1:c.-414-946C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001145770.3:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001145771.3:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001145772.3:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001145773.3:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001145774.3:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001290142.2:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370428.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370429.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370430.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370431.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370432.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370433.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370434.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370435.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370436.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370437.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370438.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370439.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370440.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370441.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370442.1:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_005682.7:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201524.4:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201525.4:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000842244	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Jan 25, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000861954	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Jun 13, 2018)	germline	clinical testing	Citation Link,
SCV001629621	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 29, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000842244

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Jan 25, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000861954

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Uncertain significance
(Jun 13, 2018)

germline

clinical testing

Citation Link,

SCV001629621

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 29, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Athena Diagnostics, SCV000842244.1

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

#	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

From Eurofins Ntd Llc (ga), SCV000861954.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	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		1	not provided	not provided	not provided

From Invitae, SCV001629621.4

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

#	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: May 7, 2024

ClinVar

Relating variation to medicine