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NM_001195248.2(APTX):c.457A>G (p.Lys153Glu) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
May 13, 2021
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:
RCV001664910.2

Allele description [Variation Report for NM_001195248.2(APTX):c.457A>G (p.Lys153Glu)]

NM_001195248.2(APTX):c.457A>G (p.Lys153Glu)

Gene:
APTX:aprataxin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p21.1
Genomic location:
Preferred name:
NM_001195248.2(APTX):c.457A>G (p.Lys153Glu)
HGVS:
  • NC_000009.12:g.32987570T>C
  • NG_012821.2:g.42562A>G
  • NM_001195248.2:c.457A>GMANE SELECT
  • NM_001195249.2:c.457A>G
  • NM_001195250.2:c.295A>G
  • NM_001195251.2:c.457A>G
  • NM_001195252.2:c.267+190A>G
  • NM_001195254.2:c.295A>G
  • NM_001368995.1:c.457A>G
  • NM_001368996.1:c.457A>G
  • NM_001368997.1:c.457A>G
  • NM_001368998.1:c.457A>G
  • NM_001368999.1:c.457A>G
  • NM_001369000.1:c.295A>G
  • NM_001369001.1:c.295A>G
  • NM_001369002.1:c.193A>G
  • NM_001369003.1:c.193A>G
  • NM_001369004.1:c.193A>G
  • NM_001369005.1:c.193A>G
  • NM_001369006.1:c.193A>G
  • NM_001370669.1:c.193A>G
  • NM_001370670.1:c.193A>G
  • NM_001370673.1:c.193A>G
  • NM_175069.3:c.457A>G
  • NM_175073.3:c.457A>G
  • NP_001182177.2:p.Lys153Glu
  • NP_001182178.1:p.Lys153Glu
  • NP_001182179.2:p.Lys99Glu
  • NP_001182180.1:p.Lys153Glu
  • NP_001182183.1:p.Lys99Glu
  • NP_001355924.1:p.Lys153Glu
  • NP_001355925.1:p.Lys153Glu
  • NP_001355926.1:p.Lys153Glu
  • NP_001355927.1:p.Lys153Glu
  • NP_001355928.1:p.Lys153Glu
  • NP_001355929.1:p.Lys99Glu
  • NP_001355930.1:p.Lys99Glu
  • NP_001355931.1:p.Lys65Glu
  • NP_001355932.1:p.Lys65Glu
  • NP_001355933.1:p.Lys65Glu
  • NP_001355934.1:p.Lys65Glu
  • NP_001355935.1:p.Lys65Glu
  • NP_001357598.1:p.Lys65Glu
  • NP_001357599.1:p.Lys65Glu
  • NP_001357602.1:p.Lys65Glu
  • NP_778239.2:p.Lys153Glu
  • NP_778243.1:p.Lys153Glu
  • NC_000009.11:g.32987568T>C
  • NM_175073.2:c.457A>G
  • NR_036577.2:n.408A>G
  • NR_160920.1:n.523A>G
  • NR_160921.1:n.427A>G
  • NR_160922.1:n.658A>G
  • NR_160923.1:n.462A>G
  • NR_160924.1:n.467A>G
  • NR_160925.1:n.663A>G
  • NR_160926.1:n.453A>G
  • NR_160927.1:n.773A>G
  • NR_160928.1:n.663A>G
  • NR_160929.1:n.577A>G
  • NR_160930.1:n.403A>G
  • NR_160931.1:n.642A>G
Protein change:
K153E
Links:
dbSNP: rs34634937
NCBI 1000 Genomes Browser:
rs34634937
Molecular consequence:
  • NM_001195252.2:c.267+190A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195248.2:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195249.2:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195250.2:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195251.2:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195254.2:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368995.1:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368996.1:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368997.1:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368998.1:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368999.1:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369000.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369001.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369002.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369003.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369004.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369005.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369006.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370669.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370670.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370673.1:c.193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175069.3:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175073.3:c.457A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_036577.2:n.408A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160920.1:n.523A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160921.1:n.427A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160922.1:n.658A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160923.1:n.462A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160924.1:n.467A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160925.1:n.663A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160926.1:n.453A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160927.1:n.773A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160928.1:n.663A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160929.1:n.577A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160930.1:n.403A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160931.1:n.642A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001880763Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics criteria)		Benign
(May 13, 2021) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Aprataxin (APTX) gene mutations resembling multiple system atrophy.

Baba Y, Uitti RJ, Boylan KB, Uehara Y, Yamada T, Farrer MJ, Couchon E, Batish SD, Wszolek ZK.

Parkinsonism Relat Disord. 2007 Apr;13(3):139-42. Epub 2006 Oct 27.

PubMed [citation]
PMID:
17049295

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV001880763.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024