NM_002075.4(GNB3):c.700-127_700-126delinsTT AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 21, 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:: RCV002149114.14

Allele description [Variation Report for NM_002075.4(GNB3):c.700-127_700-126delinsTT]

NM_002075.4(GNB3):c.700-127_700-126delinsTT

Genes:

GNB3:G protein subunit beta 3 [Gene - OMIM - HGNC]
CDCA3:cell division cycle associated 3 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_002075.4(GNB3):c.700-127_700-126delinsTT

HGVS:

NC_000012.12:g.6845459_6845460delinsTT
NG_009100.2:g.10249_10250delinsTT
NM_001297571.2:c.697-127_697-126delinsTT
NM_001297603.3:c.*1328_*1329delinsAA
NM_002075.4:c.700-127_700-126delinsTTMANE SELECT
NC_000012.11:g.6954623_6954624delinsTT

Links:

dbSNP: rs2137990547

NCBI 1000 Genomes Browser:

rs2137990547

Molecular consequence:

NM_001297603.3:c.*1328_*1329delinsAA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001297571.2:c.697-127_697-126delinsTT - intron variant - [Sequence Ontology: SO:0001627]
NM_002075.4:c.700-127_700-126delinsTT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002463837	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jul 21, 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

SCV002463837

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jul 21, 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, SCV002463837.3

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

#	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: Dec 7, 2024

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