NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 2, 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:: RCV002557311.2

Allele description [Variation Report for NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly)]

NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly)

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.686A>G (p.Asp229Gly)

HGVS:

NC_000005.10:g.90627224A>G
NG_007083.2:g.102881A>G
NM_032119.4:c.686A>GMANE SELECT
NP_115495.3:p.Asp229Gly
LRG_1095t1:c.686A>G
LRG_1095:g.102881A>G
LRG_1095p1:p.Asp229Gly
NC_000005.9:g.89923041A>G
NM_032119.3:c.686A>G
NR_003149.2:n.785A>G

Protein change:

D229G

Links:

dbSNP: rs200541858

NCBI 1000 Genomes Browser:

rs200541858

Molecular consequence:

NM_032119.4:c.686A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_003149.2:n.785A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Preimplantation Diagnosis
Preimplantation Diagnosis
Determination of the nature of a pathological condition or disease in the OVUM; ZYGOTE; or BLASTOCYST prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the...<br/>Year introduced: 1998

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003737403	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 2, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003737403

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 2, 2021)

germline

clinical testing

Citation Link

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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

Details of each submission

From Ambry Genetics, SCV003737403.2

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

Description

The c.686A>G (p.D229G) alteration is located in exon 7 (coding exon 7) of the ADGRV1 gene. This alteration results from a A to G substitution at nucleotide position 686, causing the aspartic acid (D) at amino acid position 229 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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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