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NC_000012.12:g.(?_12717002)_(13982130_?)dup AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 23, 2019
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:
RCV001032122.2

Allele description

NC_000012.12:g.(?_12717002)_(13982130_?)dup

Genes:
  • DDX47:DEAD-box helicase 47 [Gene - OMIM - HGNC]
  • GPRC5A:G protein-coupled receptor class C group 5 member A [Gene - OMIM - HGNC]
  • GPRC5D:G protein-coupled receptor class C group 5 member D [Gene - OMIM - HGNC]
  • APOLD1:apolipoprotein L domain containing 1 [Gene - OMIM - HGNC]
  • CDKN1B:cyclin dependent kinase inhibitor 1B [Gene - OMIM - HGNC]
  • EMP1:epithelial membrane protein 1 [Gene - OMIM - HGNC]
  • FAM234B:family with sequence similarity 234 member B [Gene - OMIM - HGNC]
  • GSG1:germ cell associated 1 [Gene - HGNC]
  • GRIN2B:glutamate ionotropic receptor NMDA type subunit 2B [Gene - OMIM - HGNC]
  • HEBP1:heme binding protein 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12p13.1
Genomic location:
Chr12: 12869936 - 14135064 (on Assembly GRCh37)
Preferred name:
NC_000012.12:g.(?_12717002)_(13982130_?)dup
HGVS:
  • NC_000012.12:g.(?_12717002)_(13982130_?)dup
  • NC_000012.11:g.(?_12869936)_(14135064_?)dup

Condition(s)

Name:
Intellectual disability, autosomal dominant 6 (MRD6)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES
Identifiers:
MONDO: MONDO:0013509; MedGen: C3151411; OMIM: 613970
Name:
Developmental and epileptic encephalopathy, 27 (DEE27)
Synonyms:
Epileptic encephalopathy, early infantile, 27
Identifiers:
MONDO: MONDO:0014505; MedGen: C4015316; Orphanet: 3451; OMIM: 616139

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001195429Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 23, 2019) 		germlineclinical testing

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

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, SCV001195429.1

#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 GRIN2B 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 GRIN2B-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

Last Updated: Aug 5, 2023