NM_004333.6(BRAF):c.956C>T (p.Ser319Phe) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 11, 2017
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:: RCV000316687.1

Allele description [Variation Report for NM_004333.6(BRAF):c.956C>T (p.Ser319Phe)]

NM_004333.6(BRAF):c.956C>T (p.Ser319Phe)

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.956C>T (p.Ser319Phe)

HGVS:

NC_000007.14:g.140800386G>A
NG_007873.3:g.129379C>T
NM_001354609.2:c.956C>T
NM_001374244.1:c.956C>T
NM_001374258.1:c.956C>T
NM_001378467.1:c.965C>T
NM_001378468.1:c.956C>T
NM_001378469.1:c.956C>T
NM_001378470.1:c.854C>T
NM_001378471.1:c.956C>T
NM_001378472.1:c.800C>T
NM_001378473.1:c.800C>T
NM_001378474.1:c.956C>T
NM_001378475.1:c.692C>T
NM_004333.6:c.956C>TMANE SELECT
NP_001341538.1:p.Ser319Phe
NP_001361173.1:p.Ser319Phe
NP_001361187.1:p.Ser319Phe
NP_001365396.1:p.Ser322Phe
NP_001365397.1:p.Ser319Phe
NP_001365398.1:p.Ser319Phe
NP_001365399.1:p.Ser285Phe
NP_001365400.1:p.Ser319Phe
NP_001365401.1:p.Ser267Phe
NP_001365402.1:p.Ser267Phe
NP_001365403.1:p.Ser319Phe
NP_001365404.1:p.Ser231Phe
NP_004324.2:p.Ser319Phe
LRG_299t1:c.956C>T
LRG_299:g.129379C>T
NC_000007.13:g.140500186G>A
NM_004333.4:c.956C>T

Protein change:

S231F

Links:

dbSNP: rs886041599

NCBI 1000 Genomes Browser:

rs886041599

Molecular consequence:

NM_001354609.2:c.956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.965C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.854C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.692C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.956C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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C-terminal-binding protein 1 isoform X5 [Acanthopagrus latus]
C-terminal-binding protein 1 isoform X5 [Acanthopagrus latus]
gi|1927213004|ref|XP_036932146.1|

Protein
C-terminal-binding protein 1 isoform X4 [Acanthopagrus latus]
C-terminal-binding protein 1 isoform X4 [Acanthopagrus latus]
gi|1927212998|ref|XP_036932143.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000330294	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Apr 11, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000330294

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Apr 11, 2017)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000330294.7

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

Description

The S319F variant in the BRAF gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S319F variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S319F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S319F as a variant of uncertain significance

#	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

Last Updated: Sep 29, 2024

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