U.S. flag

An official website of the United States government

NM_174978.3(C14orf39):c.958G>T (p.Glu320Ter) AND Non-obstructive azoospermia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 10, 2017
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:
RCV001530957.1

Allele description [Variation Report for NM_174978.3(C14orf39):c.958G>T (p.Glu320Ter)]

NM_174978.3(C14orf39):c.958G>T (p.Glu320Ter)

Gene:
C14orf39:chromosome 14 open reading frame 39 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q23.1
Genomic location:
Preferred name:
NM_174978.3(C14orf39):c.958G>T (p.Glu320Ter)
Other names:
C14ORF39, GLU320TER
HGVS:
  • NC_000014.9:g.60465993C>A
  • NM_174978.3:c.958G>TMANE SELECT
  • NP_777638.3:p.Glu320Ter
  • NC_000014.8:g.60932711C>A
Protein change:
E320*; GLU320TER
Links:
OMIM: 617307.0002; dbSNP: rs997282049
NCBI 1000 Genomes Browser:
rs997282049
Molecular consequence:
  • NM_174978.3:c.958G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001468898Molecular and Cell Genetics Laboratory, University of Science and Technology of China
no assertion criteria provided
Pathogenic
(Feb 10, 2017) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Molecular and Cell Genetics Laboratory, University of Science and Technology of China, SCV001468898.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022