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NM_000019.4(ACAT1):c.444_445del (p.Met148fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 25, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000152743.9

Allele description [Variation Report for NM_000019.4(ACAT1):c.444_445del (p.Met148fs)]

NM_000019.4(ACAT1):c.444_445del (p.Met148fs)

Gene:
ACAT1:acetyl-CoA acetyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)
HGVS:
  • NC_000011.10:g.108138906_108138907del
  • NG_009888.2:g.27202_27203del
  • NM_000019.4:c.444_445delMANE SELECT
  • NP_000010.1:p.Met148fs
  • LRG_1400t1:c.444_445del
  • LRG_1400:g.27202_27203del
  • LRG_1400p1:p.Met148fs
  • NC_000011.9:g.108009633_108009634del
  • NG_009888.1:g.22376_22377del
  • NM_000019.3:c.444_445del
  • NM_000019.3:c.444_445delGG
Protein change:
M148fs
Links:
dbSNP: rs727503795
NCBI 1000 Genomes Browser:
rs727503795
Molecular consequence:
  • NM_000019.4:c.444_445del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000231454Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions)
Pathogenic
(Dec 16, 2013)
germlineclinical testing

Citation Link,

SCV000490393GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Aug 25, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000231454.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV000490393.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously reported as pathogenic or benign in an affected individual to our knowledge; This variant is associated with the following publications: (PMID: 24517888)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024