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NM_014009.4(FOXP3):c.691C>A (p.Gln231Lys) AND Non-obstructive azoospermia

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000999511.9

Allele description [Variation Report for NM_014009.4(FOXP3):c.691C>A (p.Gln231Lys)]

NM_014009.4(FOXP3):c.691C>A (p.Gln231Lys)

Gene:
FOXP3:forkhead box P3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_014009.4(FOXP3):c.691C>A (p.Gln231Lys)
HGVS:
  • NC_000023.11:g.49255759G>T
  • NG_007392.1:c.691C>A
  • NG_007392.1:g.14069C>A
  • NM_001114377.2:c.586C>A
  • NM_014009.4:c.691C>AMANE SELECT
  • NP_001107849.1:p.Gln196Lys
  • NP_054728.2:p.Gln231Lys
  • LRG_62:g.14069C>A
  • NC_000023.10:g.49112220G>T
  • NG_007392.1:c.691C>A
Protein change:
Q196K
Links:
dbSNP: rs1602684496
NCBI 1000 Genomes Browser:
rs1602684496
Molecular consequence:
  • NM_001114377.2:c.586C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014009.4:c.691C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Non-obstructive azoospermia
Identifiers:
MedGen: C4021107; Human Phenotype Ontology: HP:0011961

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001156160State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University
no assertion criteria provided
Pathogenicde novocase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providednot providedcase-control

Citations

PubMed

The forkhead transcription factor, FOXP3: a critical role in male fertility in mice.

Jasurda JS, Jung DO, Froeter ED, Schwartz DB, Hopkins TD, Farris CL, McGee S, Narayan P, Ellsworth BS.

Biol Reprod. 2014 Jan 9;90(1):4. doi: 10.1095/biolreprod.113.112375. Print 2014 Jan.

PubMed [citation]
PMID:
24258212
PMCID:
PMC4076402

Details of each submission

From State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, SCV001156160.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: Nov 10, 2024