NM_004333.6(BRAF):c.2128-16_2128-14del AND RASopathy

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 10, 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:: RCV002165691.6

Allele description [Variation Report for NM_004333.6(BRAF):c.2128-16_2128-14del]

NM_004333.6(BRAF):c.2128-16_2128-14del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_004333.6(BRAF):c.2128-16_2128-14del

HGVS:

NC_000007.14:g.140734786_140734788del
NG_007873.3:g.194979_194981del
NM_001354609.2:c.2128-16_2128-14del
NM_001374244.1:c.2248-16_2248-14del
NM_001374258.1:c.2248-16_2248-14del
NM_001378467.1:c.2137-16_2137-14del
NM_001378468.1:c.2127+5026_2127+5028del
NM_001378469.1:c.2062-16_2062-14del
NM_001378470.1:c.2026-16_2026-14del
NM_001378471.1:c.2017-16_2017-14del
NM_001378472.1:c.1972-16_1972-14del
NM_001378473.1:c.1972-16_1972-14del
NM_001378474.1:c.2127+5026_2127+5028del
NM_001378475.1:c.1864-16_1864-14del
NM_004333.4:c.2128-16_2128-14delCTT
NM_004333.6:c.2128-16_2128-14delMANE SELECT
LRG_299t1:c.2128-16_2128-14del
LRG_299:g.194979_194981del
NC_000007.13:g.140434584_140434586del
NC_000007.13:g.140434586_140434588del

Links:

dbSNP: rs1585932359

NCBI 1000 Genomes Browser:

rs1585932359

Molecular consequence:

NM_001354609.2:c.2128-16_2128-14del - intron variant - [Sequence Ontology: SO:0001627]
NM_001374244.1:c.2248-16_2248-14del - intron variant - [Sequence Ontology: SO:0001627]
NM_001374258.1:c.2248-16_2248-14del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378467.1:c.2137-16_2137-14del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378468.1:c.2127+5026_2127+5028del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378469.1:c.2062-16_2062-14del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378470.1:c.2026-16_2026-14del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378471.1:c.2017-16_2017-14del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378472.1:c.1972-16_1972-14del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378473.1:c.1972-16_1972-14del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378474.1:c.2127+5026_2127+5028del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378475.1:c.1864-16_1864-14del - intron variant - [Sequence Ontology: SO:0001627]
NM_004333.6:c.2128-16_2128-14del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: RASopathy
Synonyms:: rasopathies; Noonan spectrum disorder
Identifiers:: MONDO: MONDO:0021060; MedGen: C5555857

Recent activity

Clear Turn Off Turn On

Sisymbrieae external transcribed spacer, partial sequence.
Sisymbrieae external transcribed spacer, partial sequence.
PopSet: 1955633540

PopSet
UPF0547 protein C16orf87 homolog [Rattus norvegicus]
UPF0547 protein C16orf87 homolog [Rattus norvegicus]
gi|197313669|ref|NP_001127893.1|

Protein

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
SCV002346405	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Oct 10, 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

SCV002346405

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Oct 10, 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, SCV002346405.3

#	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: Oct 13, 2024

ClinVar

Relating variation to medicine