NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu) AND not specified

Germline classification:: Benign (3 submissions)
Last evaluated:: Apr 29, 2014
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:: RCV000039643.15

Allele description [Variation Report for NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu)]

NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu)

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.8291C>T (p.Ser2764Leu)

Other names:

p.S2764L:TCG>TTG

HGVS:

NC_000005.10:g.90704393C>T
NG_007083.2:g.180050C>T
NM_032119.4:c.8291C>TMANE SELECT
NP_115495.3:p.Ser2764Leu
LRG_1095t1:c.8291C>T
LRG_1095:g.180050C>T
LRG_1095p1:p.Ser2764Leu
NC_000005.9:g.90000210C>T
NM_032119.3:c.8291C>T
NR_003149.2:n.8307C>T
Q8WXG9:p.Ser2764Leu
c.8291C>T

Protein change:

S2764L

Links:

UniProtKB: Q8WXG9#VAR_026007; dbSNP: rs16869016

NCBI 1000 Genomes Browser:

rs16869016

Molecular consequence:

NM_032119.4:c.8291C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_003149.2:n.8307C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

244

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
SCV000063332	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Mar 16, 2007)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000168712	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Apr 29, 2014)	germline	clinical testing	Citation Link,
SCV000193293	Genetic Services Laboratory, University of Chicago	no assertion criteria provided	Likely benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000063332

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Mar 16, 2007)

germline

clinical testing

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

SCV000168712

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Apr 29, 2014)

germline

clinical testing

Citation Link,

SCV000193293

Genetic Services Laboratory, University of Chicago

no assertion criteria provided

Likely benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	246	244	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	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, Mass General Brigham Personalized Medicine, SCV000063332.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	246	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	not provided	not provided	not provided	not provided		246	not provided	244	not provided

From GeneDx, SCV000168712.10

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Genetic Services Laboratory, University of Chicago, SCV000193293.1

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

Last Updated: Feb 28, 2024

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