NC_000020.10:g.(?_30226821)_(31025141_?)dup AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 18, 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:: RCV004579511.2

Allele description [Variation Report for NC_000020.10:g.(?_30226821)_(31025141_?)dup]

NC_000020.10:g.(?_30226821)_(31025141_?)dup

Genes:

ASXL1:ASXL transcriptional regulator 1 [Gene - OMIM - HGNC]
BCL2L1:BCL2 like 1 [Gene - OMIM - HGNC]
CCM2L:CCM2 like scaffold protein [Gene - HGNC]
HCK:HCK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
PLAGL2:PLAG1 like zinc finger 2 [Gene - OMIM - HGNC]
TPX2:TPX2 microtubule nucleation factor [Gene - OMIM - HGNC]
XKR7:XK related 7 [Gene - HGNC]
COX4I2:cytochrome c oxidase subunit 4I2 [Gene - OMIM - HGNC]
DUSP15:dual specificity phosphatase 15 [Gene - OMIM - HGNC]
FOXS1:forkhead box S1 [Gene - OMIM - HGNC]
KIF3B:kinesin family member 3B [Gene - OMIM - HGNC]
MYLK2:myosin light chain kinase 2 [Gene - OMIM - HGNC]
PDRG1:p53 and DNA damage regulated 1 [Gene - OMIM - HGNC]
POFUT1:protein O-fucosyltransferase 1 [Gene - OMIM - HGNC]
TM9SF4:transmembrane 9 superfamily member 4 [Gene - OMIM - HGNC]
TTLL9:tubulin tyrosine ligase like 9 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

20q11.21

Genomic location:

Chr20: 30226821 - 31025141 (on Assembly GRCh37)

Preferred name:

NC_000020.10:g.(?_30226821)_(31025141_?)dup

HGVS:

NC_000020.10:g.(?_30226821)_(31025141_?)dup

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: Mus musculus butyrophilin-like 10 (Btnl10), transcript variant X1, mR...
PREDICTED: Mus musculus butyrophilin-like 10 (Btnl10), transcript variant X1, mRNA
gi|1039736087|ref|XM_006532533.3|

Nucleotide
Megapodius layardi phosphodiesterase 6B cGMP-specific rod beta (PDE6B) gene, int...
Megapodius layardi phosphodiesterase 6B cGMP-specific rod beta (PDE6B) gene, intron 10
gi|1883897761|gb|MT587944.1|

Nucleotide
PREDICTED: Mus musculus transmembrane protein 45b (Tmem45b), transcript variant ...
PREDICTED: Mus musculus transmembrane protein 45b (Tmem45b), transcript variant X1, mRNA
gi|1907196948|ref|XM_011242482.3|

Nucleotide
Phosphorylase b kinase regulatory subunit [Caenorhabditis elegans]
Phosphorylase b kinase regulatory subunit [Caenorhabditis elegans]
gi|548932358|emb|CDH93402.1|

Protein
Solanum lycopersicum cultivar Kopilka zheltaya 15-cis-zeta-carotene isomerase ge...
Solanum lycopersicum cultivar Kopilka zheltaya 15-cis-zeta-carotene isomerase gene, complete cds; plastid
gi|2196663378|gb|OK318876.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005063515	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 18, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005063515

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 18, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV005063515.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

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. This variant has not been reported in the literature in individuals affected with ASXL1-related conditions. A copy number gain of the genomic region encompassing the full coding sequence of the ASXL1 gene has been identified. 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.

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

Last Updated: Sep 29, 2024

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