NM_004333.6(BRAF):c.1993-11T>C AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Sep 29, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001571782.4

Allele description [Variation Report for NM_004333.6(BRAF):c.1993-11T>C]

NM_004333.6(BRAF):c.1993-11T>C

Gene:

BRAF:B-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_004333.6(BRAF):c.1993-11T>C

HGVS:

NC_000007.14:g.140739957A>G
NG_007873.3:g.189808T>C
NM_001354609.2:c.1993-11T>C
NM_001374244.1:c.2113-11T>C
NM_001374258.1:c.2113-11T>C
NM_001378467.1:c.2002-11T>C
NM_001378468.1:c.1993-11T>C
NM_001378469.1:c.1927-11T>C
NM_001378470.1:c.1891-11T>C
NM_001378471.1:c.1882-11T>C
NM_001378472.1:c.1837-11T>C
NM_001378473.1:c.1837-11T>C
NM_001378474.1:c.1993-11T>C
NM_001378475.1:c.1729-11T>C
NM_004333.6:c.1993-11T>CMANE SELECT
LRG_299:g.189808T>C
NC_000007.13:g.140439757A>G

Links:

dbSNP: rs750297886

NCBI 1000 Genomes Browser:

rs750297886

Molecular consequence:

NM_001354609.2:c.1993-11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001374244.1:c.2113-11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001374258.1:c.2113-11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001378467.1:c.2002-11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001378468.1:c.1993-11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001378469.1:c.1927-11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001378470.1:c.1891-11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001378471.1:c.1882-11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001378472.1:c.1837-11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001378473.1:c.1837-11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001378474.1:c.1993-11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001378475.1:c.1729-11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_004333.6:c.1993-11T>C - 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
SCV001796315	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jan 24, 2019)	germline	clinical testing	Citation Link,
SCV004562695	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Likely benign (Sep 29, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001796315

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jan 24, 2019)

germline

clinical testing

Citation Link,

SCV004562695

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Likely benign
(Sep 29, 2023)

germline

clinical testing

Citation Link

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001796315.1

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

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004562695.1

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

#	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: Feb 25, 2025

ClinVar

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