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NM_174978.3(C14orf39):c.958G>T (p.Glu320Ter) AND Spermatogenic failure 52

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 23, 2021
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:
RCV001293259.1

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:
Spermatogenic failure 52
Identifiers:
MONDO: MONDO:0030938; MedGen: C5543094; OMIM: 619202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001481849OMIM
no assertion criteria provided
Pathogenic
(Feb 23, 2021) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.

Fan S, Jiao Y, Khan R, Jiang X, Javed AR, Ali A, Zhang H, Zhou J, Naeem M, Murtaza G, Li Y, Yang G, Zaman Q, Zubair M, Guan H, Zhang X, Ma H, Jiang H, Ali H, Dil S, Shah W, Ahmad N, et al.

Am J Hum Genet. 2021 Feb 4;108(2):324-336. doi: 10.1016/j.ajhg.2021.01.010. Epub 2021 Jan 27. Erratum in: Am J Hum Genet. 2022 Jul 7;109(7):1343. doi: 10.1016/j.ajhg.2022.06.006.

PubMed [citation]
PMID:
33508233
PMCID:
PMC7895996

Details of each submission

From OMIM, SCV001481849.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 37-year-old infertile Chinese man (P3907) with meiotic arrest causing spermatogenic failure (SPGF52; 619202), Fan et al. (2021) identified homozygosity for a c.958G-T transversion (c.958G-T, NM_174978.3) in exon 11 of the C14ORF39 gene, resulting in a glu320-to-ter (E320X) substitution. His consanguineous parents declined to provide DNA for segregation analysis of the mutation, which was not found in the 1000 Genomes Project, ESP6500, or gnomAD databases. Immunofluorescence staining of patient testicular sections was consistent with incomplete synapsis of homologous chromosomes, and no spermatocytes with a typical sex body were observed in seminiferous tubules. In yeast 2-hybrid assays, the mutant protein formed aggregates when coexpressed with SYCE1, but the number of punctate aggregates was greatly reduced compared wildtype C14ORF39, indicating impaired polycomplex formation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022