NM_004333.6(BRAF):c.2128-27_2128-18del AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Nov 1, 2024
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:: RCV001534186.13

Allele description [Variation Report for NM_004333.6(BRAF):c.2128-27_2128-18del]

NM_004333.6(BRAF):c.2128-27_2128-18del

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_004333.6(BRAF):c.2128-27_2128-18del

HGVS:

NC_000007.14:g.140734788_140734797del
NC_000007.14:g.140734794AAAGAAAAAA[1]
NG_007873.3:g.194958CTTTTTTTTT[1]
NM_001354609.2:c.2128-27_2128-18del
NM_001374244.1:c.2248-27_2248-18del
NM_001374258.1:c.2248-27_2248-18del
NM_001378467.1:c.2137-27_2137-18del
NM_001378468.1:c.2127+5015_2127+5024del
NM_001378469.1:c.2062-27_2062-18del
NM_001378470.1:c.2026-27_2026-18del
NM_001378471.1:c.2017-27_2017-18del
NM_001378472.1:c.1972-27_1972-18del
NM_001378473.1:c.1972-27_1972-18del
NM_001378474.1:c.2127+5015_2127+5024del
NM_001378475.1:c.1864-27_1864-18del
NM_004333.6:c.2128-27_2128-18delMANE SELECT
LRG_299t1:c.2128-27_2128-18del
LRG_299:g.194958CTTTTTTTTT[1]
NC_000007.13:g.140434588_140434597del
NC_000007.13:g.140434594AAAGAAAAAA[1]
NM_004333.4:c.2128-27_2128-18del

Links:

dbSNP: rs774138098

NCBI 1000 Genomes Browser:

rs774138098

Molecular consequence:

NM_001354609.2:c.2128-27_2128-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001374244.1:c.2248-27_2248-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001374258.1:c.2248-27_2248-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378467.1:c.2137-27_2137-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378468.1:c.2127+5015_2127+5024del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378469.1:c.2062-27_2062-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378470.1:c.2026-27_2026-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378471.1:c.2017-27_2017-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378472.1:c.1972-27_1972-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378473.1:c.1972-27_1972-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378474.1:c.2127+5015_2127+5024del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378475.1:c.1864-27_1864-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_004333.6:c.2128-27_2128-18del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

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
SCV001751090	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Aug 11, 2019)	germline	clinical testing	Citation Link,
SCV004161128	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Nov 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001751090

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Aug 11, 2019)

germline

clinical testing

Citation Link,

SCV004161128

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Nov 1, 2024)

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	yes	14	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001751090.1

#	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 CeGaT Center for Human Genetics Tuebingen, SCV004161128.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	14	not provided	not provided	clinical testing	not provided

Description

BRAF: BS2

#	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		14	not provided	not provided	not provided

Last Updated: Feb 25, 2025

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