NM_001122681.2(SH3BP2):c.701_712del (p.Leu234_Pro237del) AND Fibrous dysplasia of jaw

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 13, 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:: RCV003834576.2

Allele description [Variation Report for NM_001122681.2(SH3BP2):c.701_712del (p.Leu234_Pro237del)]

NM_001122681.2(SH3BP2):c.701_712del (p.Leu234_Pro237del)

Gene:

SH3BP2:SH3 domain binding protein 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4p16.3

Genomic location:

Preferred name:

NM_001122681.2(SH3BP2):c.701_712del (p.Leu234_Pro237del)

HGVS:

NC_000004.12:g.2829607_2829618del
NG_011609.1:g.41585_41596del
NM_001122681.2:c.701_712delMANE SELECT
NM_001145855.2:c.785_796del
NM_001145856.2:c.872_883del
NM_003023.4:c.701_712del
NP_001116153.1:p.Leu234_Pro237del
NP_001139327.1:p.Leu262_Pro265del
NP_001139328.1:p.Leu291_Pro294del
NP_003014.3:p.Leu234_Pro237del
LRG_1334t1:c.701_712del
LRG_1334t2:c.785_796del
LRG_1334:g.41585_41596del
LRG_1334p1:p.Leu234_Pro237del
LRG_1334p2:p.Leu262_Pro265del
NC_000004.11:g.2831330_2831341del
NC_000004.11:g.2831334_2831345del

Molecular consequence:

NM_001122681.2:c.701_712del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001145855.2:c.785_796del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001145856.2:c.872_883del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_003023.4:c.701_712del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Fibrous dysplasia of jaw (CRBM)
Synonyms:: Cherubism
Identifiers:: MONDO: MONDO:0007315; MedGen: C0008029; Orphanet: 184; OMIM: 118400

Recent activity

Clear Turn Off Turn On

Plasmodium
Plasmodium
A genus of protozoa that comprise the malaria parasites of mammals. Four species infect humans (although occasional infections with primate malarias may occur). These are PLAS...<br/>Year introduced: HAEMAMOEBA was see PLASMODIUM 1976-1991

MeSH
Plasmodium knowlesi
Plasmodium knowlesi
A protozoan parasite from Southeast Asia that causes monkey malaria. It is naturally acquired by man in Malaysia and can also be transmitted experimentally to humans....<br/>Year introduced: 1992

MeSH

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
SCV004636793	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 13, 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

SCV004636793

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 13, 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, SCV004636793.1

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

Description

This variant has not been reported in the literature in individuals affected with SH3BP2-related conditions. This variant is present in population databases (rs780059018, gnomAD 0.0009%). 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. This variant, c.701_712del, results in the deletion of 4 amino acid(s) of the SH3BP2 protein (p.Leu234_Pro237del), 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

ClinVar

Relating variation to medicine