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NM_030632.3(ASXL3):c.1939dup (p.Thr647fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 6, 2016
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:
RCV000364000.1

Allele description [Variation Report for NM_030632.3(ASXL3):c.1939dup (p.Thr647fs)]

NM_030632.3(ASXL3):c.1939dup (p.Thr647fs)

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.1939dup (p.Thr647fs)
HGVS:
  • NC_000018.10:g.33739343dup
  • NG_055244.1:g.165767dup
  • NM_030632.3:c.1939dupMANE SELECT
  • NP_085135.1:p.Thr647fs
  • NC_000018.9:g.31319307dup
  • NM_030632.1:c.1939dupA
  • NM_030632.3:c.1939dupAMANE SELECT
Protein change:
T647fs
Links:
dbSNP: rs886041753
NCBI 1000 Genomes Browser:
rs886041753
Molecular consequence:
  • NM_030632.3:c.1939dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000330501GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 6, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000330501.6

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

Description

The c.1939dupA pathogenic variant in the ASXL3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1939dupA variant causes a frameshift starting with codon Threonine 647, changes this amino acid to a Asparagine residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Thr647AsnfsX6. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1939dupA variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1939dupA as a pathogenic variant.

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

Last Updated: Jan 7, 2023