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NM_001371928.1(AHDC1):c.1758dup (p.Arg587fs) AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 14, 2019
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:
RCV001007944.1

Allele description [Variation Report for NM_001371928.1(AHDC1):c.1758dup (p.Arg587fs)]

NM_001371928.1(AHDC1):c.1758dup (p.Arg587fs)

Gene:
AHDC1:AT-hook DNA binding motif containing 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_001371928.1(AHDC1):c.1758dup (p.Arg587fs)
HGVS:
  • NC_000001.11:g.27550364dup
  • NG_034158.1:g.58137dup
  • NM_001029882.3:c.1758dup
  • NM_001371928.1:c.1758dupMANE SELECT
  • NP_001025053.1:p.Arg587fs
  • NP_001358857.1:p.Arg587fs
  • NC_000001.10:g.27876868_27876869insT
  • NC_000001.10:g.27876875dup
  • NM_001029882.2:c.1758dupA
  • NM_001029882.3:c.1758dupA
Protein change:
R587fs
Links:
dbSNP: rs1064797043
NCBI 1000 Genomes Browser:
rs1064797043
Molecular consequence:
  • NM_001029882.3:c.1758dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371928.1:c.1758dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Synonyms:
Xia-Gibbs syndrome
Identifiers:
MONDO: MONDO:0014358; MedGen: C4014419; Orphanet: 412069; OMIM: 615829

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001167657Genomic Medicine Lab, University of California San Francisco - CSER
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 14, 2019) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot 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 Genomic Medicine Lab, University of California San Francisco - CSER, SCV001167657.1

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

Last Updated: Sep 29, 2024