NM_000755.5(CRAT):c.1705G>A (p.Val569Met) AND Deficiency of carnitine acetyltransferase

Clinical significance:Likely pathogenic (Last evaluated: Jan 22, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000766223.1

Allele description [Variation Report for NM_000755.5(CRAT):c.1705G>A (p.Val569Met)]

NM_000755.5(CRAT):c.1705G>A (p.Val569Met)

Gene:
CRAT:carnitine O-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_000755.5(CRAT):c.1705G>A (p.Val569Met)
HGVS:
  • NC_000009.12:g.129095573C>T
  • NM_000755.5:c.1705G>AMANE SELECT
  • NM_001257363.3:c.1642G>A
  • NM_001346546.2:c.1708G>A
  • NM_001346547.2:c.1633G>A
  • NM_001346548.2:c.1570G>A
  • NM_001346549.2:c.1585G>A
  • NM_004003.4:c.1642G>A
  • NP_000746.3:p.Val569Met
  • NP_001244292.2:p.Val548Met
  • NP_001333475.2:p.Val570Met
  • NP_001333476.2:p.Val545Met
  • NP_001333477.2:p.Val524Met
  • NP_001333478.2:p.Val529Met
  • NP_003994.3:p.Val548Met
  • NC_000009.11:g.131857852C>T
  • NM_000755.4:c.1705G>A
Protein change:
V524M
Links:
dbSNP: rs762425351
NCBI 1000 Genomes Browser:
rs762425351
Molecular consequence:
  • NM_000755.5:c.1705G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257363.3:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346546.2:c.1708G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346547.2:c.1633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346548.2:c.1570G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346549.2:c.1585G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004003.4:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deficiency of carnitine acetyltransferase
Synonyms:
CARNITINE ACETYLTRANSFERASE DEFICIENCY
Identifiers:
MONDO: MONDO:0011642; MedGen: C1443228; OMIM: 606175

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000864410Computational Biology Unit,University of Barino assertion criteria providedLikely pathogenic
(Jan 22, 2019)
maternalresearch, in vitro

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1yesin vitro, research

Citations

PubMed

CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.

Laera L, Punzi G, Porcelli V, Gambacorta N, Trisolini L, Pierri CL, De Grassi A.

Hum Mutat. 2020 Jan;41(1):110-114. doi: 10.1002/humu.23901. Epub 2019 Sep 23.

PubMed [citation]
PMID:
31448845

Details of each submission

From Computational Biology Unit,University of Bari, SCV000864410.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearch PubMed (1)
2not providednot providednot providednot providedin vitro PubMed (1)
3not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not provideddiscovery1not providednot providednot provided
2maternalyesnot providedskin fibroblastsnot providednot providednot providednot providednot provided
3maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2020

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