NR_033294.2(SNORD118):n.104_105delinsAT AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 18, 2022
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:: RCV002790890.2

Allele description [Variation Report for NR_033294.2(SNORD118):n.104_105delinsAT]

NR_033294.2(SNORD118):n.104_105delinsAT

Genes:

SNORD118:small nucleolar RNA, C/D box 118 [Gene - OMIM - HGNC]
TMEM107:transmembrane protein 107 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NR_033294.2(SNORD118):n.104_105delinsAT

HGVS:

NC_000017.11:g.8173484_8173485delinsAT
NG_054916.1:g.7927_7928delinsAT
NG_056674.1:g.5104_5105delinsAT
NM_001351278.2:c.*718_*719delinsAT
NM_001351279.2:c.*718_*719delinsAT
NM_001351280.2:c.*718_*719delinsAT
NM_032354.5:c.*718_*719delinsAT
NM_183065.4:c.*718_*719delinsATMANE SELECT
LRG_1204t1:n.104_105delinsAT
LRG_1204:g.5104_5105delinsAT
NC_000017.10:g.8076802_8076803delinsAT
NR_033294.2:n.104_105delinsATMANE SELECT
NR_147092.2:n.969_970delinsAT

Molecular consequence:

NM_001351278.2:c.*718_*719delinsAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001351279.2:c.*718_*719delinsAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001351280.2:c.*718_*719delinsAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_032354.5:c.*718_*719delinsAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_183065.4:c.*718_*719delinsAT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NR_033294.2:n.104_105delinsAT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147092.2:n.969_970delinsAT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003034122	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 18, 2022)	germline	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

SCV003034122

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 18, 2022)

germline

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	germline	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, SCV003034122.1

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

Description

This variant occurs in the SNORD118 gene, which encodes an RNA molecule that does not result in a protein product. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with SNORD118-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.

#	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: Oct 13, 2024

ClinVar

Relating variation to medicine