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NM_001369369.1(FOXN1):c.1089_1103del (p.Trp363_Pro368delinsCys) AND T-lymphocyte deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 11, 2020
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:
RCV001027394.3

Allele description [Variation Report for NM_001369369.1(FOXN1):c.1089_1103del (p.Trp363_Pro368delinsCys)]

NM_001369369.1(FOXN1):c.1089_1103del (p.Trp363_Pro368delinsCys)

Gene:
FOXN1:forkhead box N1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001369369.1(FOXN1):c.1089_1103del (p.Trp363_Pro368delinsCys)
HGVS:
  • NC_000017.11:g.28534492_28534506del
  • NG_007260.1:g.15552_15566del
  • NM_001369369.1:c.1089_1103delMANE SELECT
  • NM_003593.3:c.1089_1103del
  • NP_001356298.1:p.Trp363_Pro368delinsCys
  • NP_003584.2:p.Trp363_Pro368delinsCys
  • NP_003584.2:p.Trp363_Pro368delinsCys
  • LRG_61t1:c.1089_1103del
  • LRG_61:g.15552_15566del
  • LRG_61p1:p.Trp363_Pro368delinsCys
  • NC_000017.10:g.26861510_26861524del
  • NM_003593.2:c.1089_1103del
  • NM_003593.2:c.1089_1103del15
  • p.Trp363_Pro368delinsCys
Links:
OMIM: 600838.0005; dbSNP: rs1597566726
NCBI 1000 Genomes Browser:
rs1597566726
Molecular consequence:
  • NM_001369369.1:c.1089_1103del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_003593.3:c.1089_1103del - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:
T-lymphocyte deficiency
Synonyms:
Immune defect due to absence of thymus; Thymic aplasia; Nezelof syndrome
Identifiers:
MONDO: MONDO:0009451; MedGen: C0152094; Orphanet: 83471; OMIM: 242700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001189941OMIM
no assertion criteria provided
Pathogenic
(Nov 11, 2020) 		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

FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans.

Du Q, Huynh LK, Coskun F, Molina E, King MA, Raj P, Khan S, Dozmorov I, Seroogy CM, Wysocki CA, Padron GT, Yates TR, Markert ML, de la Morena MT, van Oers NS.

J Clin Invest. 2019 Nov 1;129(11):4724-4738. doi: 10.1172/JCI127565.

PubMed [citation]
PMID:
31566583
PMCID:
PMC6819092

Details of each submission

From OMIM, SCV001189941.2

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

Description

For discussion of the 15-bp deletion (c.1089_1103del) in exon 7 of the FOXN1 gene, predicted to result in a trp-to-cys substitution followed by an in-frame deletion of 5 highly conserved amino acids (Trp363_Pro367delinsCys), that was found in compound heterozygous state in a patient with T-cell immunodeficiency with thymic aplasia (TIDTA; 242700) by Du et al. (2019), see 600838.0004.

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

Last Updated: Dec 2, 2023