NM_001195248.2(APTX):c.940_956del (p.Lys314fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2018
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:: RCV001090492.20

Allele description

NM_001195248.2(APTX):c.940_956del (p.Lys314fs)

Gene:

APTX:aprataxin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9p21.1

Genomic location:

Preferred name:

NM_001195248.2(APTX):c.940_956del (p.Lys314fs)

HGVS:

NC_000009.12:g.32973574_32973590del
NG_012821.2:g.56545_56561del
NM_001195248.2:c.940_956delMANE SELECT
NM_001195249.2:c.940_956del
NM_001195250.2:c.778_794del
NM_001195251.2:c.*97_*113del
NM_001195252.2:c.724_740del
NM_001195254.2:c.778_794del
NM_001368995.1:c.940_956del
NM_001368996.1:c.940_956del
NM_001368997.1:c.940_956del
NM_001368998.1:c.940_956del
NM_001368999.1:c.*97_*113del
NM_001369000.1:c.778_794del
NM_001369001.1:c.778_794del
NM_001369002.1:c.676_692del
NM_001369003.1:c.676_692del
NM_001369004.1:c.676_692del
NM_001369005.1:c.676_692del
NM_001369006.1:c.*97_*113del
NM_001370669.1:c.676_692del
NM_001370670.1:c.676_692del
NM_001370673.1:c.676_692del
NM_175069.3:c.*97_*113del
NM_175073.3:c.940_956del
NP_001182177.2:p.Lys314fs
NP_001182178.1:p.Lys314fs
NP_001182179.2:p.Lys260fs
NP_001182181.2:p.Lys242fs
NP_001182183.1:p.Lys260fs
NP_001355924.1:p.Lys314fs
NP_001355925.1:p.Lys314fs
NP_001355926.1:p.Lys314fs
NP_001355927.1:p.Lys314fs
NP_001355929.1:p.Lys260fs
NP_001355930.1:p.Lys260fs
NP_001355931.1:p.Lys226fs
NP_001355932.1:p.Lys226fs
NP_001355933.1:p.Lys226fs
NP_001355934.1:p.Lys226fs
NP_001357598.1:p.Lys226fs
NP_001357599.1:p.Lys226fs
NP_001357602.1:p.Lys226fs
NP_778243.1:p.Lys314fs
NC_000009.11:g.32973572_32973588del
NR_036577.2:n.891_907del
NR_160920.1:n.779_795del
NR_160921.1:n.910_926del
NR_160922.1:n.1141_1157del
NR_160923.1:n.945_961del
NR_160924.1:n.950_966del
NR_160925.1:n.1146_1162del
NR_160926.1:n.936_952del
NR_160927.1:n.1029_1045del
NR_160928.1:n.955_971del
NR_160929.1:n.833_849del
NR_160930.1:n.886_902del
NR_160931.1:n.1125_1141del

Protein change:

K226fs

Links:

dbSNP: rs1828552847

NCBI 1000 Genomes Browser:

rs1828552847

Molecular consequence:

NM_001195251.2:c.*97_*113del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001368999.1:c.*97_*113del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369006.1:c.*97_*113del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_175069.3:c.*97_*113del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001195248.2:c.940_956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195249.2:c.940_956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195250.2:c.778_794del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195252.2:c.724_740del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195254.2:c.778_794del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368995.1:c.940_956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368996.1:c.940_956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368997.1:c.940_956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368998.1:c.940_956del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369000.1:c.778_794del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369001.1:c.778_794del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369002.1:c.676_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369003.1:c.676_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369004.1:c.676_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369005.1:c.676_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370669.1:c.676_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370670.1:c.676_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370673.1:c.676_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_175073.3:c.940_956del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_036577.2:n.891_907del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160920.1:n.779_795del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160921.1:n.910_926del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160922.1:n.1141_1157del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160923.1:n.945_961del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160924.1:n.950_966del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160925.1:n.1146_1162del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160926.1:n.936_952del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160927.1:n.1029_1045del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160928.1:n.955_971del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160929.1:n.833_849del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160930.1:n.886_902del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160931.1:n.1125_1141del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Mus musculus histocompatibility 2, class II antigen E alpha (H2-Ea), mRNA
Mus musculus histocompatibility 2, class II antigen E alpha (H2-Ea), mRNA
gi|6754125|ref|NM_010381.1|

Nucleotide
Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA
Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA
gi|1890346132|ref|NM_001201538.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001246070	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Nov 1, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001246070

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Nov 1, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001246070.24

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

Last Updated: Aug 4, 2024

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