NM_001079858.3(ADGRG2):c.2033_2035delinsACTCGTGGATTGCTCTG (p.Val678fs) AND Obstructive azoospermia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 23, 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:: RCV001706750.2

Allele description [Variation Report for NM_001079858.3(ADGRG2):c.2033_2035delinsACTCGTGGATTGCTCTG (p.Val678fs)]

NM_001079858.3(ADGRG2):c.2033_2035delinsACTCGTGGATTGCTCTG (p.Val678fs)

Gene:

ADGRG2:adhesion G protein-coupled receptor G2 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

Xp22.13

Genomic location:

Preferred name:

NM_001079858.3(ADGRG2):c.2033_2035delinsACTCGTGGATTGCTCTG (p.Val678fs)

HGVS:

NC_000023.11:g.19003041_19003043delinsCAGAGCAATCCACGAGT
NG_021304.1:g.124595_124597delinsACTCGTGGATTGCTCTG
NM_001079858.3:c.2033_2035delinsACTCGTGGATTGCTCTGMANE SELECT
NM_001079859.3:c.1991_1993delinsACTCGTGGATTGCTCTG
NM_001079860.3:c.1967_1969delinsACTCGTGGATTGCTCTG
NM_001184833.2:c.1985_1987delinsACTCGTGGATTGCTCTG
NM_001184834.2:c.2033_2035delinsACTCGTGGATTGCTCTG
NM_001184835.2:c.1919_1921delinsACTCGTGGATTGCTCTG
NM_001184836.2:c.1961_1963delinsACTCGTGGATTGCTCTG
NM_001184837.2:c.1943_1945delinsACTCGTGGATTGCTCTG
NM_005756.4:c.2024_2026delinsACTCGTGGATTGCTCTG
NP_001073327.1:p.Val678fs
NP_001073328.1:p.Val664fs
NP_001073329.1:p.Val656fs
NP_001171762.1:p.Val662fs
NP_001171763.1:p.Val678fs
NP_001171764.1:p.Val640fs
NP_001171765.1:p.Val654fs
NP_001171766.1:p.Val648fs
NP_005747.2:p.Val675fs
NC_000023.10:g.19021159_19021161delinsCAGAGCAATCCACGAGT
NM_001079858.2:c.2033_2035delinsACTCGTGGATTGCTCTG

Protein change:

V640fs

Links:

dbSNP: rs2146526778

NCBI 1000 Genomes Browser:

rs2146526778

Molecular consequence:

NM_001079858.3:c.2033_2035delinsACTCGTGGATTGCTCTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079859.3:c.1991_1993delinsACTCGTGGATTGCTCTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079860.3:c.1967_1969delinsACTCGTGGATTGCTCTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001184833.2:c.1985_1987delinsACTCGTGGATTGCTCTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001184834.2:c.2033_2035delinsACTCGTGGATTGCTCTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001184835.2:c.1919_1921delinsACTCGTGGATTGCTCTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001184836.2:c.1961_1963delinsACTCGTGGATTGCTCTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001184837.2:c.1943_1945delinsACTCGTGGATTGCTCTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005756.4:c.2024_2026delinsACTCGTGGATTGCTCTG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Obstructive azoospermia
Identifiers:: MedGen: C4023106; Human Phenotype Ontology: HP:0011962

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LIF-AS1 LIF antisense RNA 1 [Homo sapiens]
LIF-AS1 LIF antisense RNA 1 [Homo sapiens]
Gene ID:110806283

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001911513	Institute of Reproductive Genetics, University of Münster	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 23, 2021)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001911513

Institute of Reproductive Genetics, University of Münster

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 23, 2021)

germline

research

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	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Reproductive Genetics, University of Münster, SCV001911513.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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