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NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 4, 2020
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:
RCV001266310.4

Allele description [Variation Report for NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])]

NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])

Gene:
AUTS2:activator of transcription and developmental regulator AUTS2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q11.22
Genomic location:
Preferred name:
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])
HGVS:
  • NC_000007.14:g.70766248_70766271del
  • NG_034133.1:g.1172330_1172353del
  • NM_001127231.3:c.1603_1626del
  • NM_015570.2:c.1603_1626del
  • NM_015570.4:c.1603_1626delMANE SELECT
  • NP_001120703.1:p.531HQHT[1]
  • NP_056385.1:p.531HQHT[1]
  • NC_000007.13:g.70231221_70231244del
  • NC_000007.13:g.70231234_70231257del
  • NM_015570.2:c.1603_1626del
  • NM_015570.2:c.1603_1626del24
  • NM_015570.2:c.1603_1626del24
  • NM_015570.2:c.1603_1626delCACCAGCACACGCACCAGCACACC
  • NM_015570.3:c.1603_1626del
  • NM_015570.3:c.1603_1626delCACCAGCACACGCACCAGCACACC
  • NM_015570.4:c.1603_1626del
Links:
dbSNP: rs1789934246
NCBI 1000 Genomes Browser:
rs1789934246
Molecular consequence:
  • NM_001127231.3:c.1603_1626del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_015570.4:c.1603_1626del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001444483Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 4, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001444483.4

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

Description

The alteration results in an in-frame deletion:_x000D_ _x000D_ The c.1603_1626del24 (p.H535_T542del) alteration is located in coding exon 9 of the AUTS2 gene. This alteration results from an in-frame deletion of 24 nucleotides at positions c.1603 to c.1626, resulting in the deletion of 8 amino acids at codons 535 to 542. The alteration is not observed in population databases:_x000D_ _x000D_ Based on data from the Genome Aggregation Database (gnomAD), the AUTS2 c.1603_1626del24 alteration was not observed, with coverage at this position The alteration is predicted deleterious by in silico models:_x000D_ _x000D_ The p.H535_T542del alteration is predicted to be deleterious with a score of -42.658 by PROVEAN in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024