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NM_000019.4(ACAT1):c.-15C>G AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 9, 2014
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:
RCV000152742.6

Allele description [Variation Report for NM_000019.4(ACAT1):c.-15C>G]

NM_000019.4(ACAT1):c.-15C>G

Gene:
ACAT1:acetyl-CoA acetyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000019.4(ACAT1):c.-15C>G
HGVS:
  • NC_000011.10:g.108121592C>G
  • NG_009888.2:g.9888C>G
  • NM_000019.4:c.-15C>GMANE SELECT
  • LRG_1400t1:c.-15C>G
  • LRG_1400:g.9888C>G
  • NC_000011.9:g.107992319C>G
  • NG_009888.1:g.5062C>G
  • NM_000019.3:c.-15C>G
Links:
dbSNP: rs113348145
NCBI 1000 Genomes Browser:
rs113348145
Molecular consequence:
  • NM_000019.4:c.-15C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
Observations:
6

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000202129Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Jun 9, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown6not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000202129.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided6not providednot providednot provided

Last Updated: Mar 30, 2024