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NM_030632.3(ASXL3):c.1783C>T (p.Gln595Ter) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 1, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000760545.19

Allele description [Variation Report for NM_030632.3(ASXL3):c.1783C>T (p.Gln595Ter)]

NM_030632.3(ASXL3):c.1783C>T (p.Gln595Ter)

Gene:
ASXL3:ASXL transcriptional regulator 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_030632.3(ASXL3):c.1783C>T (p.Gln595Ter)
HGVS:
  • NC_000018.10:g.33739187C>T
  • NG_055244.1:g.165611C>T
  • NM_030632.3:c.1783C>TMANE SELECT
  • NP_085135.1:p.Gln595Ter
  • NC_000018.9:g.31319151C>T
  • NM_030632.1:c.1783C>T
Protein change:
Q595*
Links:
dbSNP: rs1568360291
NCBI 1000 Genomes Browser:
rs1568360291
Molecular consequence:
  • NM_030632.3:c.1783C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000890436GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 2, 2018) 		germlineclinical testing

Citation Link,

SCV002498365CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Jan 1, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000890436.1

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

Description

The Q595X variant in the ASXL3 gene has been reported previously as confirmed de novo in a male child with feeding issues, failure to thrive, hypotonia, microcephaly, severe intellectual disability, probable autism, and dysmorphic features (Balasubramanian et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q595X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q595X as a pathogenic variant.

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

From CeGaT Center for Human Genetics Tuebingen, SCV002498365.18

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024