U.S. flag

An official website of the United States government

NM_001330574.2(ZNF711):c.-458_-438del AND Intellectual disability, X-linked 97

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 18, 2022
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:
RCV003139445.3

Allele description [Variation Report for NM_001330574.2(ZNF711):c.-458_-438del]

NM_001330574.2(ZNF711):c.-458_-438del

Gene:
ZNF711:zinc finger protein 711 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_001330574.2(ZNF711):c.-458_-438del
HGVS:
  • NC_000023.11:g.85244139_85244159del
  • NG_012535.1:g.5149_5169del
  • NG_016590.2:g.4632_4652del
  • NM_001330574.2:c.-458_-438delMANE SELECT
  • NM_001375431.1:c.-79_-59del
  • NM_001375432.1:c.-453_-433del
  • NM_001375433.1:c.-816_-796del
  • NM_001375434.1:c.-342_-322del
  • NM_001375435.1:c.-816_-796del
  • NM_001375436.1:c.-458_-438del
  • NM_001375437.1:c.-453_-433del
  • NM_021998.5:c.-199_-179del
  • NC_000023.10:g.84499145_84499165del
Molecular consequence:
  • NM_001330574.2:c.-458_-438del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001375431.1:c.-79_-59del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001375432.1:c.-453_-433del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001375433.1:c.-816_-796del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001375434.1:c.-342_-322del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001375435.1:c.-816_-796del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001375436.1:c.-458_-438del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001375437.1:c.-453_-433del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_021998.5:c.-199_-179del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Intellectual disability, X-linked 97 (XLID97)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97
Identifiers:
MONDO: MONDO:0010430; MedGen: C2749020; Orphanet: 777; OMIM: 300803

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
SCV003821867Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 18, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV003821867.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024