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NM_006885.4(ZFHX3):c.3663G>C (p.Gln1221His) AND Intellectual disability

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 21, 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:
RCV003458322.2

Allele description [Variation Report for NM_006885.4(ZFHX3):c.3663G>C (p.Gln1221His)]

NM_006885.4(ZFHX3):c.3663G>C (p.Gln1221His)

Genes:
ZFHX3-AS1:ZFHX3 antisense RNA 1 [Gene - HGNC]
ZFHX3:zinc finger homeobox 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.3
Genomic location:
Preferred name:
NM_006885.4(ZFHX3):c.3663G>C (p.Gln1221His)
Other names:
NR_171704.1:n.348-8868C>G
HGVS:
  • NC_000016.10:g.72811905C>G
  • NG_013211.2:g.1085027G>C
  • NM_001164766.2:c.921G>C
  • NM_001386735.1:c.3663G>C
  • NM_006885.4:c.3663G>CMANE SELECT
  • NP_001158238.1:p.Gln307His
  • NP_001373664.1:p.Gln1221His
  • NP_008816.3:p.Gln1221His
  • NC_000016.9:g.72845804C>G
Protein change:
Q1221H
Molecular consequence:
  • NM_001164766.2:c.921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386735.1:c.3663G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006885.4:c.3663G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004190128Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard - GREGoR Consortium
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 21, 2023) 		germlinecuration

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

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 Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard - GREGoR Consortium, SCV004190128.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

The heterozygous p.Gln1221His variant in ZFHX3 was identified by our study in 1 individual with intellectual disability and autism. While this gene is still lacking sufficient evidence to establish a gene-disease relationship, we believe this is a possible novel gene candidate for intellectual disability and autism. Given the limited information about this gene-disease relationship, the significance of the p.Gln1221His variant is uncertain. If you have any additional information about functional evidence or other individuals with this phenotype that also have variants in ZFHX3 we encourage you to reach out to us.

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

Last Updated: Mar 30, 2024