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NM_033305.3(VPS13A):c.1380T>C (p.Pro460=) AND Chorea-acanthocytosis

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 19, 2021
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:
RCV001825746.1

Allele description [Variation Report for NM_033305.3(VPS13A):c.1380T>C (p.Pro460=)]

NM_033305.3(VPS13A):c.1380T>C (p.Pro460=)

Gene:
VPS13A:vacuolar protein sorting 13 homolog A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.2
Genomic location:
Preferred name:
NM_033305.3(VPS13A):c.1380T>C (p.Pro460=)
HGVS:
  • NC_000009.12:g.77227413T>C
  • NG_008931.1:g.54969T>C
  • NM_001018037.2:c.1380T>C
  • NM_001018038.3:c.1380T>C
  • NM_015186.4:c.1380T>C
  • NM_033305.3:c.1380T>CMANE SELECT
  • NP_001018047.1:p.Pro460=
  • NP_001018048.1:p.Pro460=
  • NP_056001.1:p.Pro460=
  • NP_150648.2:p.Pro460=
  • NC_000009.11:g.79842329T>C
  • NM_033305.2:c.1380T>C
Links:
dbSNP: rs750046579
NCBI 1000 Genomes Browser:
rs750046579
Molecular consequence:
  • NM_001018037.2:c.1380T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018038.3:c.1380T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_015186.4:c.1380T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033305.3:c.1380T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Chorea-acanthocytosis
Synonyms:
Choreoacanthocytosis; Acanthocytosis with neurologic disorder; Levine-Critchley syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008695; MedGen: C0393576; Orphanet: 2388; OMIM: 200150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002078229Natera, Inc.
no assertion criteria provided
Likely benign
(Mar 19, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002078229.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024