NC_000020.10:g.(?_56993257)_(57967907_?)dup AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Nov 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000821283.1

Allele description [Variation Report for NC_000020.10:g.(?_56993257)_(57967907_?)dup]

NC_000020.10:g.(?_56993257)_(57967907_?)dup

Genes:
Variant type:
Duplication
Cytogenetic location:
20q13.32
Genomic location:
Chr20: 56993257 - 57967907 (on Assembly GRCh37)
Preferred name:
NC_000020.10:g.(?_56993257)_(57967907_?)dup
HGVS:
NC_000020.10:g.(?_56993257)_(57967907_?)dup

Condition(s)

Name:
Amyotrophic lateral sclerosis type 8 (ALS8)
Identifiers:
MedGen: C1837728; Orphanet: 803; OMIM: 608627
Name:
Spinal muscular atrophy, late-onset, finkel type
Identifiers:
MedGen: C1854058

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000962037Invitaecriteria provided, single submitter
Uncertain significance
(Nov 1, 2018)
germlineclinical testing

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

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000962037.1

#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 exons 2-6 of the VAPB gene. The 5' boundary is likely confined to intron 1. The 3' end of this event is unknown as it extends 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 VAPB-related disease. Experimental studies are not available for this variant, and the functional significance of a copy number gain of these exons is currently unknown. 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: Nov 2, 2019

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