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NC_000020.10:g.(?_32369077)_(32369213_?)del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 25, 2023
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:
RCV004580991.2

Allele description [Variation Report for NC_000020.10:g.(?_32369077)_(32369213_?)del]

NC_000020.10:g.(?_32369077)_(32369213_?)del

Gene:
ZNF341:zinc finger protein 341 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
20q11.22
Genomic location:
Chr20: 32369077 - 32369213 (on Assembly GRCh37)
Preferred name:
NC_000020.10:g.(?_32369077)_(32369213_?)del
HGVS:
NC_000020.10:g.(?_32369077)_(32369213_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005063534Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 25, 2023) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ZNF341 controls STAT3 expression and thereby immunocompetence.

Frey-Jakobs S, Hartberger JM, Fliegauf M, Bossen C, Wehmeyer ML, Neubauer JC, Bulashevska A, Proietti M, Fröbel P, Nöltner C, Yang L, Rojas-Restrepo J, Langer N, Winzer S, Engelhardt KR, Glocker C, Pfeifer D, Klein A, Schäffer AA, Lagovsky I, Lachover-Roth I, Béziat V, et al.

Sci Immunol. 2018 Jun 15;3(24). doi:pii: eaat4941. 10.1126/sciimmunol.aat4941.

PubMed [citation]
PMID:
29907690
PMCID:
PMC6173313

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

Béziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Lévy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, et al.

Sci Immunol. 2018 Jun 15;3(24). doi:pii: eaat4956. 10.1126/sciimmunol.aat4956.

PubMed [citation]
PMID:
29907691
PMCID:
PMC6141026
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV005063534.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is a gross deletion of the genomic region encompassing exon(s) 11 of the ZNF341 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in ZNF341 are known to be pathogenic (PMID: 29907690, 29907691). This variant has not been reported in the literature in individuals affected with ZNF341-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024