NM_004333.6(BRAF):c.1432+17_1432+19del AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 14, 2022
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:: RCV002469457.1

Allele description [Variation Report for NM_004333.6(BRAF):c.1432+17_1432+19del]

NM_004333.6(BRAF):c.1432+17_1432+19del

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.1432+17_1432+19del

HGVS:

NC_000007.14:g.140781557CAC[1]
NG_007873.3:g.148203GTG[1]
NM_001354609.2:c.1432+17_1432+19del
NM_001374244.1:c.1552+17_1552+19del
NM_001374258.1:c.1552+17_1552+19del
NM_001378467.1:c.1441+17_1441+19del
NM_001378468.1:c.1432+17_1432+19del
NM_001378469.1:c.1366+17_1366+19del
NM_001378470.1:c.1330+17_1330+19del
NM_001378471.1:c.1321+17_1321+19del
NM_001378472.1:c.1276+17_1276+19del
NM_001378473.1:c.1276+17_1276+19del
NM_001378474.1:c.1432+17_1432+19del
NM_001378475.1:c.1168+17_1168+19del
NM_004333.6:c.1432+17_1432+19delMANE SELECT
LRG_299t1:c.1432+17_1432+19del
LRG_299:g.148203GTG[1]
NC_000007.13:g.140481357CAC[1]
NC_000007.13:g.140481357_140481359del
NM_004333.4:c.1432+17_1432+19delGTG
NM_004333.6:c.1432+17_1432+19del

Links:

dbSNP: rs777363183

NCBI 1000 Genomes Browser:

rs777363183

Molecular consequence:

NM_001354609.2:c.1432+17_1432+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001374244.1:c.1552+17_1552+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001374258.1:c.1552+17_1552+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378467.1:c.1441+17_1441+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378468.1:c.1432+17_1432+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378469.1:c.1366+17_1366+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378470.1:c.1330+17_1330+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378471.1:c.1321+17_1321+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378472.1:c.1276+17_1276+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378473.1:c.1276+17_1276+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378474.1:c.1432+17_1432+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378475.1:c.1168+17_1168+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_004333.6:c.1432+17_1432+19del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002766258	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Nov 14, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002766258

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Benign
(Nov 14, 2022)

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002766258.1

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

Description

Variant summary: BRAF c.1432+17_1432+19delGTG alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 6e-05 in 251286 control chromosomes (gnomAD). The observed variant frequency is approximately 13 fold of the estimated maximal expected allele frequency for a pathogenic variant in BRAF causing Cardiofaciocutaneous Syndrome phenotype (4.7e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.1432+17_1432+19delGTG in individuals affected with Cardiofaciocutaneous Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as benign.

#	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: Sep 29, 2024

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