NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) AND Obstructive azoospermia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 21, 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:: RCV001640482.11

Allele description [Variation Report for NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)]

NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)

Gene:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)

HGVS:

NC_000007.14:g.117627538G>T
NG_016465.4:g.166755G>T
NM_000492.4:c.3485G>TMANE SELECT
NP_000483.3:p.Arg1162Leu
NP_000483.3:p.Arg1162Leu
LRG_663t1:c.3485G>T
LRG_663:g.166755G>T
LRG_663p1:p.Arg1162Leu
NC_000007.13:g.117267592G>T
NM_000492.3:c.3485G>T
NM_000492.4:c.3485G>T
P13569:p.Arg1162Leu

Protein change:

R1162L

Links:

UniProtKB: P13569#VAR_000252; dbSNP: rs1800120

NCBI 1000 Genomes Browser:

rs1800120

Molecular consequence:

NM_000492.4:c.3485G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001860334	Institute of Reproductive Genetics, University of Münster	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 21, 2021)	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

SCV001860334

Institute of Reproductive Genetics, University of Münster

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 21, 2021)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

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, SCV001860334.2

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

Last Updated: Oct 26, 2024

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