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NM_004341.5(CAD):c.2414dup (p.Thr806fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 30, 2023
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:
RCV003697047.1

Allele description [Variation Report for NM_004341.5(CAD):c.2414dup (p.Thr806fs)]

NM_004341.5(CAD):c.2414dup (p.Thr806fs)

Genes:
LOC126806171:BRD4-independent group 4 enhancer GRCh37_chr2:27454350-27455549 [Gene]
CAD:carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_004341.5(CAD):c.2414dup (p.Thr806fs)
HGVS:
  • NC_000002.12:g.27231993dup
  • NG_046394.1:g.19604dup
  • NG_082495.1:g.612dup
  • NM_001306079.2:c.2225dup
  • NM_004341.5:c.2414dupMANE SELECT
  • NP_001293008.1:p.Thr743fs
  • NP_004332.2:p.Thr806fs
  • NC_000002.11:g.27454859_27454860insC
  • NC_000002.11:g.27454861dup
Protein change:
T743fs
Molecular consequence:
  • NM_001306079.2:c.2225dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004341.5:c.2414dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004462418Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 30, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

CAD mutations and uridine-responsive epileptic encephalopathy.

Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB.

Brain. 2017 Feb;140(2):279-286. doi: 10.1093/brain/aww300. Epub 2016 Dec 21.

PubMed [citation]
PMID:
28007989

A Patient With CAD Deficiency Responsive to Uridine and Literature Review.

Zhou L, Xu H, Wang T, Wu Y.

Front Neurol. 2020;11:64. doi: 10.3389/fneur.2020.00064.

PubMed [citation]
PMID:
32117025
PMCID:
PMC7012989
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV004462418.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CAD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr806Asnfs*3) in the CAD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAD are known to be pathogenic (PMID: 28007989, 32117025, 32820246, 33497533).

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

Last Updated: Feb 28, 2024