NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) AND not specified

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

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Feb 20, 2015
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000039515.5

Allele description

NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn)

Gene:

ADGRV1:adhesion G protein-coupled receptor V1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.3

Genomic location:

Preferred name:

NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn)

Other names:

p.T4090N:ACC>AAC

HGVS:

NC_000005.10:g.90763453C>A
NG_007083.2:g.239110C>A
NM_032119.4:c.12269C>AMANE SELECT
NP_115495.3:p.Thr4090Asn
LRG_1095t1:c.12269C>A
LRG_1095:g.239110C>A
LRG_1095p1:p.Thr4090Asn
NC_000005.9:g.90059270C>A
NM_032119.3:c.12269C>A
NR_003149.2:n.12285C>A
c.12269C>A

Protein change:

T4090N

Links:

dbSNP: rs199839743

NCBI 1000 Genomes Browser:

rs199839743

Molecular consequence:

NM_032119.4:c.12269C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_003149.2:n.12285C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000063204	Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Apr 30, 2012)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000231442	EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Feb 20, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000063204

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Apr 30, 2012)

germline

clinical testing

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

SCV000231442

EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely benign
(Feb 20, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	13	13	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000063204.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	13	not provided	not provided	clinical testing	PubMed (1)

Description

Thr4090Asn in Exon 59 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (39/6606) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		13	not provided	13	not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000231442.5

#	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

Last Updated: Nov 29, 2021

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