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:: RCV003697047.2

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

Recent activity

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PREDICTED: Mus musculus predicted gene, 36367 (Gm36367), transcript variant X1, ...
PREDICTED: Mus musculus predicted gene, 36367 (Gm36367), transcript variant X1, ncRNA
gi|1720433869|ref|XR_379904.2|

Nucleotide
Staphylococcus pseudintermedius strain SP10 16S ribosomal RNA gene, partial sequ...
Staphylococcus pseudintermedius strain SP10 16S ribosomal RNA gene, partial sequence
gi|2015696711|gb|MW793391.1|

Nucleotide
Moxostoma cf. poecilurum MHD-2009 NADH dehydrogenase subunit 4 (ND4) gene, compl...
Moxostoma cf. poecilurum MHD-2009 NADH dehydrogenase subunit 4 (ND4) gene, complete cds; tRNA-His, tRNA-Ser, and tRNA-Leu genes, complete sequence; and NADH dehydrogenase subunit 5 (ND5) gene, complete cds; mitochondrial
gi|260766675|gb|FJ751848.1|

Nucleotide
Homo sapiens cyclic nucleotide gated channel subunit beta 3 (CNGB3), RefSeqGene ...
Homo sapiens cyclic nucleotide gated channel subunit beta 3 (CNGB3), RefSeqGene on chromosome 8
gi|293597526|ref|NG_016980.1|

Nucleotide
cyclin-J isoform 1 [Homo sapiens]
cyclin-J isoform 1 [Homo sapiens]
gi|197276674|ref|NP_001127847.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004462418	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 30, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 28007989, 32117025, 32820246, 33497533, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004462418

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 30, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV004462418.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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