NM_015178.3(RHOBTB2):c.987_995del (p.His332_His334del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 5, 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:: RCV003877310.2

Allele description [Variation Report for NM_015178.3(RHOBTB2):c.987_995del (p.His332_His334del)]

NM_015178.3(RHOBTB2):c.987_995del (p.His332_His334del)

Gene:

RHOBTB2:Rho related BTB domain containing 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8p21.3

Genomic location:

Preferred name:

NM_015178.3(RHOBTB2):c.987_995del (p.His332_His334del)

HGVS:

NC_000008.11:g.23007232_23007240del
NG_047133.1:g.24975_24983del
NG_047133.2:g.61421_61429del
NM_001160036.2:c.1053_1061del
NM_001160037.2:c.1008_1016del
NM_001374791.1:c.987_995del
NM_015178.3:c.987_995delMANE SELECT
NP_001153508.1:p.His354_His356del
NP_001153509.1:p.His339_His341del
NP_001361720.1:p.His332_His334del
NP_055993.2:p.His332_His334del
NC_000008.10:g.22864737_22864745del
NC_000008.10:g.22864745_22864753del

Molecular consequence:

NM_001160036.2:c.1053_1061del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001160037.2:c.1008_1016del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374791.1:c.987_995del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_015178.3:c.987_995del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004684614	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 5, 2023)	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

SCV004684614

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 5, 2023)

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, SCV004684614.1

#	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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with RHOBTB2-related conditions. This variant is present in population databases (rs758884291, gnomAD 0.004%). This variant, c.1053_1061del, results in the deletion of 3 amino acid(s) of the RHOBTB2 protein (p.His354_His356del), but otherwise preserves the integrity of the reading frame.

#	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: Sep 29, 2024

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