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NM_003410.4(ZFX):c.598CAG[1] (p.Gln201del) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 19, 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:
RCV004771149.1

Allele description [Variation Report for NM_003410.4(ZFX):c.598CAG[1] (p.Gln201del)]

NM_003410.4(ZFX):c.598CAG[1] (p.Gln201del)

Gene:
ZFX:zinc finger protein X-linked [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xp22.11
Genomic location:
Preferred name:
NM_003410.4(ZFX):c.598CAG[1] (p.Gln201del)
HGVS:
  • NC_000023.11:g.24179722CAG[1]
  • NG_021253.2:g.34986CAG[1]
  • NM_001178084.2:c.598CAG[1]
  • NM_001178085.1:c.598CAG[1]
  • NM_001178086.2:c.-41-27601_-41-27599del
  • NM_001178095.2:c.598CAG[1]
  • NM_001330327.2:c.715CAG[1]
  • NM_003410.4:c.598CAG[1]MANE SELECT
  • NP_001171555.1:p.Gln201del
  • NP_001171556.1:p.Gln201del
  • NP_001171566.1:p.Gln201del
  • NP_001317256.1:p.Gln240del
  • NP_003401.2:p.Gln201del
  • NC_000023.10:g.24197839CAG[1]
  • NM_001178085.1:c.601_603del
Protein change:
Q201del
Molecular consequence:
  • NM_001178084.2:c.598CAG[1] - inframe deletion - [Sequence Ontology: SO:0001822]
  • NM_001178085.1:c.598CAG[1] - inframe deletion - [Sequence Ontology: SO:0001822]
  • NM_001178095.2:c.598CAG[1] - inframe deletion - [Sequence Ontology: SO:0001822]
  • NM_001330327.2:c.715CAG[1] - inframe deletion - [Sequence Ontology: SO:0001822]
  • NM_003410.4:c.598CAG[1] - inframe deletion - [Sequence Ontology: SO:0001822]
  • NM_001178086.2:c.-41-27601_-41-27599del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV005380210GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 19, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV005380210.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)

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

Last Updated: Oct 26, 2024