NM_024009.3(GJB3):c.99G>A (p.Val33=) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 17, 2013
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:: RCV000155863.4

Allele description [Variation Report for NM_024009.3(GJB3):c.99G>A (p.Val33=)]

NM_024009.3(GJB3):c.99G>A (p.Val33=)

Gene:

GJB3:gap junction protein beta 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.3

Genomic location:

Preferred name:

NM_024009.3(GJB3):c.99G>A (p.Val33=)

HGVS:

NC_000001.11:g.34784861G>A
NG_008309.1:g.8673G>A
NM_001005752.2:c.99G>A
NM_024009.3:c.99G>AMANE SELECT
NP_001005752.1:p.Val33=
NP_076872.1:p.Val33=
NC_000001.10:g.35250462G>A
NM_024009.2:c.99G>A
p.Val33Val

Links:

dbSNP: rs727504610

NCBI 1000 Genomes Browser:

rs727504610

Molecular consequence:

NM_001005752.2:c.99G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_024009.3:c.99G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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ornithine carbamoyltransferase [Methanoregula boonei]
ornithine carbamoyltransferase [Methanoregula boonei]
gi|501054887|ref|WP_012106381.1|

Protein
Halorubrum sp. strain 11EY_A39 16S ribosomal RNA gene, partial sequence
Halorubrum sp. strain 11EY_A39 16S ribosomal RNA gene, partial sequence
gi|1425142520|gb|MH619722.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000205574	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Jul 17, 2013)	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

SCV000205574

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Jul 17, 2013)

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	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000205574.4

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

Description

Val33Val in Exon 2 of GJB3: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence.

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

Last Updated: Sep 29, 2024

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