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NM_030632.3(ASXL3):c.1429dup (p.Ser477fs) AND Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Germline classification:
Pathogenic (1 submission)
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:
RCV003307368.1

Allele description [Variation Report for NM_030632.3(ASXL3):c.1429dup (p.Ser477fs)]

NM_030632.3(ASXL3):c.1429dup (p.Ser477fs)

Gene:
ASXL3:ASXL transcriptional regulator 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_030632.3(ASXL3):c.1429dup (p.Ser477fs)
HGVS:
  • NC_000018.10:g.33738833dup
  • NG_055244.1:g.165257dup
  • NM_030632.3:c.1429dupMANE SELECT
  • NP_085135.1:p.Ser477fs
  • NC_000018.9:g.31318797dup
Protein change:
S477fs
Molecular consequence:
  • NM_030632.3:c.1429dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Name:
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (BRPS)
Synonyms:
Bainbridge-Ropers syndrome
Identifiers:
MONDO: MONDO:0014205; MedGen: C4750837; Orphanet: 352577; OMIM: 615485

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004009569Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicde novoclinical testing

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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes2not 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 Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV004009569.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jul 16, 2023