NM_004993.6(ATXN3):c.915_916insCAGCAGCAGCAGCAGCAGCA (p.Gly306fs) AND not specified

Germline classification:: Benign (2 submissions)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001579398.2

Allele description [Variation Report for NM_004993.6(ATXN3):c.915_916insCAGCAGCAGCAGCAGCAGCA (p.Gly306fs)]

NM_004993.6(ATXN3):c.915_916insCAGCAGCAGCAGCAGCAGCA (p.Gly306fs)

Genes:

LOC108663987:ataxin 3 repeat instability region [Gene]
ATXN3:ataxin 3 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

14q32.12

Genomic location:

Preferred name:

NM_004993.6(ATXN3):c.915_916insCAGCAGCAGCAGCAGCAGCA (p.Gly306fs)

HGVS:

NC_000014.9:g.92071010_92071011insTGCTGCTGCTGCTGCTGCTG
NG_008198.2:g.40611_40612insCAGCAGCAGCAGCAGCAGCA
NG_051545.1:g.100_101insTGCTGCTGCTGCTGCTGCTG
NM_001127696.2:c.870_871insCAGCAGCAGCAGCAGCAGCA
NM_001127697.3:c.762_763insCAGCAGCAGCAGCAGCAGCA
NM_001164774.2:c.232_233insCAGCAGCAGCAGCAGCAGCA
NM_001164776.2:c.277_278insCAGCAGCAGCAGCAGCAGCA
NM_001164777.2:c.112_113insCAGCAGCAGCAGCAGCAGCA
NM_001164778.2:c.430_431insCAGCAGCAGCAGCAGCAGCA
NM_001164779.2:c.552_553insCAGCAGCAGCAGCAGCAGCA
NM_001164780.2:c.378_379insCAGCAGCAGCAGCAGCAGCA
NM_001164781.2:c.705_706insCAGCAGCAGCAGCAGCAGCA
NM_001164782.2:c.67_68insCAGCAGCAGCAGCAGCAGCA
NM_004993.6:c.915_916insCAGCAGCAGCAGCAGCAGCAMANE SELECT
NM_030660.5:c.750_751insCAGCAGCAGCAGCAGCAGCA
NP_001121168.1:p.Gly291fs
NP_001121169.2:p.Gly255fs
NP_001158246.1:p.Gly78fs
NP_001158248.1:p.Gly93fs
NP_001158249.1:p.Gly38fs
NP_001158250.1:p.Gly144fs
NP_001158251.1:p.Gly185fs
NP_001158252.1:p.Gly127fs
NP_001158253.1:p.Gly236fs
NP_001158254.1:p.Gly23fs
NP_004984.2:p.Gly306fs
NP_109376.1:p.Gly251fs
LRG_865t1:c.915_916insCAGCAGCAGCAGCAGCAGCA
LRG_865:g.40611_40612insCAGCAGCAGCAGCAGCAGCA
LRG_865p1:p.Gly306fs
NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTG
NR_028453.2:n.859_860insCAGCAGCAGCAGCAGCAGCA
NR_028454.2:n.694_695insCAGCAGCAGCAGCAGCAGCA
NR_028455.2:n.913_914insCAGCAGCAGCAGCAGCAGCA
NR_028456.2:n.748_749insCAGCAGCAGCAGCAGCAGCA
NR_028457.2:n.1004_1005insCAGCAGCAGCAGCAGCAGCA
NR_028458.2:n.848_849insCAGCAGCAGCAGCAGCAGCA
NR_028459.2:n.999_1000insCAGCAGCAGCAGCAGCAGCA
NR_028460.2:n.374_375insCAGCAGCAGCAGCAGCAGCA
NR_028461.2:n.857_858insCAGCAGCAGCAGCAGCAGCA
NR_028462.2:n.836_837insCAGCAGCAGCAGCAGCAGCA
NR_028463.2:n.548_549insCAGCAGCAGCAGCAGCAGCA
NR_028464.2:n.846_847insCAGCAGCAGCAGCAGCAGCA
NR_028465.2:n.868_869insCAGCAGCAGCAGCAGCAGCA
NR_028466.2:n.494_495insCAGCAGCAGCAGCAGCAGCA
NR_028467.2:n.860_861insCAGCAGCAGCAGCAGCAGCA
NR_028468.2:n.692_693insCAGCAGCAGCAGCAGCAGCA
NR_028469.2:n.706_707insCAGCAGCAGCAGCAGCAGCA
NR_028470.2:n.164_165insCAGCAGCAGCAGCAGCAGCA
NR_031765.2:n.361_362insCAGCAGCAGCAGCAGCAGCA

Protein change:

G127fs

Links:

dbSNP: rs1555397062

NCBI 1000 Genomes Browser:

rs1555397062

Molecular consequence:

NM_001127696.2:c.870_871insCAGCAGCAGCAGCAGCAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127697.3:c.762_763insCAGCAGCAGCAGCAGCAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164774.2:c.232_233insCAGCAGCAGCAGCAGCAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164776.2:c.277_278insCAGCAGCAGCAGCAGCAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164777.2:c.112_113insCAGCAGCAGCAGCAGCAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164778.2:c.430_431insCAGCAGCAGCAGCAGCAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164779.2:c.552_553insCAGCAGCAGCAGCAGCAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164780.2:c.378_379insCAGCAGCAGCAGCAGCAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164781.2:c.705_706insCAGCAGCAGCAGCAGCAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164782.2:c.67_68insCAGCAGCAGCAGCAGCAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004993.6:c.915_916insCAGCAGCAGCAGCAGCAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_030660.5:c.750_751insCAGCAGCAGCAGCAGCAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
NR_028453.2:n.859_860insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028454.2:n.694_695insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028455.2:n.913_914insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028456.2:n.748_749insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028457.2:n.1004_1005insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028458.2:n.848_849insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028459.2:n.999_1000insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028460.2:n.374_375insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028461.2:n.857_858insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028462.2:n.836_837insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028463.2:n.548_549insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028464.2:n.846_847insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028465.2:n.868_869insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028466.2:n.494_495insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028467.2:n.860_861insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028468.2:n.692_693insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028469.2:n.706_707insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028470.2:n.164_165insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_031765.2:n.361_362insCAGCAGCAGCAGCAGCAGCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Homo sapiens SORBS2 antisense RNA 1 (SORBS2-AS1), long non-coding RNA
Homo sapiens SORBS2 antisense RNA 1 (SORBS2-AS1), long non-coding RNA
gi|2515614929|ref|NR_186082.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001807088	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing
SCV001968293	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001807088

Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus

no assertion criteria provided

Benign

germline

clinical testing

SCV001968293

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001807088.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001968293.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

ClinVar

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