U.S. flag

An official website of the United States government

NC_000011.9:g.(?_5709028)_(6640651_?)dup AND Neuronal ceroid lipofuscinosis

Germline classification:
no classifications from unflagged records (1 submission)
Review status:
no classifications from unflagged records
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:
RCV001032559.3

Allele description [Variation Report for NC_000011.9:g.(?_5709028)_(6640651_?)dup]

NC_000011.9:g.(?_5709028)_(6640651_?)dup

Genes:
  • ARFIP2:ADP ribosylation factor interacting protein 2 [Gene - OMIM - HGNC]
  • FHIP1B:FHF complex subunit HOOK interacting protein 1B [Gene - OMIM - HGNC]
  • TAF10:TATA-box binding protein associated factor 10 [Gene - OMIM - HGNC]
  • APBB1:amyloid beta precursor protein binding family B member 1 [Gene - OMIM - HGNC]
  • CAVIN3:caveolae associated protein 3 [Gene - OMIM - HGNC]
  • CCKBR:cholecystokinin B receptor [Gene - OMIM - HGNC]
  • C11orf42:chromosome 11 open reading frame 42 [Gene - HGNC]
  • CNGA4:cyclic nucleotide gated channel subunit alpha 4 [Gene - OMIM - HGNC]
  • DNHD1:dynein heavy chain domain 1 [Gene - OMIM - HGNC]
  • HPX:hemopexin [Gene - OMIM - HGNC]
  • ILK:integrin linked kinase [Gene - OMIM - HGNC]
  • OR52B2:olfactory receptor family 52 subfamily B member 2 [Gene - HGNC]
  • OR52E4:olfactory receptor family 52 subfamily E member 4 [Gene - HGNC]
  • OR52E6:olfactory receptor family 52 subfamily E member 6 [Gene - HGNC]
  • OR52E8:olfactory receptor family 52 subfamily E member 8 [Gene - HGNC]
  • OR52L1:olfactory receptor family 52 subfamily L member 1 [Gene - HGNC]
  • OR52N1:olfactory receptor family 52 subfamily N member 1 [Gene - HGNC]
  • OR52N2:olfactory receptor family 52 subfamily N member 2 [Gene - HGNC]
  • OR52N4:olfactory receptor family 52 subfamily N member 4 [Gene - HGNC]
  • OR52N5:olfactory receptor family 52 subfamily N member 5 [Gene - HGNC]
  • OR52W1:olfactory receptor family 52 subfamily W member 1 [Gene - HGNC]
  • OR56A1:olfactory receptor family 56 subfamily A member 1 [Gene - HGNC]
  • OR56A3:olfactory receptor family 56 subfamily A member 3 [Gene - HGNC]
  • OR56A4:olfactory receptor family 56 subfamily A member 4 [Gene - HGNC]
  • OR56A5:olfactory receptor family 56 subfamily A member 5 [Gene - HGNC]
  • OR56B1:olfactory receptor family 56 subfamily B member 1 [Gene - HGNC]
  • OR56B4:olfactory receptor family 56 subfamily B member 4 [Gene - HGNC]
  • RRP8:ribosomal RNA processing 8 [Gene - OMIM - HGNC]
  • SMPD1:sphingomyelin phosphodiesterase 1 [Gene - OMIM - HGNC]
  • TIMM10B:translocase of inner mitochondrial membrane 10B [Gene - OMIM - HGNC]
  • TRIM22:tripartite motif containing 22 [Gene - OMIM - HGNC]
  • TRIM3:tripartite motif containing 3 [Gene - OMIM - HGNC]
  • TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11p15.4
Genomic location:
Chr11: 5709028 - 6640651 (on Assembly GRCh37)
Preferred name:
NC_000011.9:g.(?_5709028)_(6640651_?)dup
HGVS:
NC_000011.9:g.(?_5709028)_(6640651_?)dup

Condition(s)

Name:
Neuronal ceroid lipofuscinosis
Synonyms:
Ceroid storage disease
Identifiers:
MONDO: MONDO:0016295; MedGen: C0027877; Orphanet: 79263; OMIM: PS256730

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001195866.1

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

Description

This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the TPP1 gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with TPP1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001195866Invitae
flagged submission
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV001195866 appears to be redundant with SCV001518904.

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 31, 2019) 		germlineclinical testing

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

Last Updated: Dec 9, 2023