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NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) AND Cardio-facio-cutaneous syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 28, 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:
RCV000150205.14

Allele description [Variation Report for NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr)]

NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr)

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.1595G>A (p.Cys532Tyr)
Other names:
NM_004333.4(BRAF):c.1595G>A
HGVS:
  • NC_000007.14:g.140777011C>T
  • NG_007873.3:g.152754G>A
  • NM_001354609.2:c.1595G>A
  • NM_001374244.1:c.1715G>A
  • NM_001374258.1:c.1715G>A
  • NM_001378467.1:c.1604G>A
  • NM_001378468.1:c.1595G>A
  • NM_001378469.1:c.1529G>A
  • NM_001378470.1:c.1493G>A
  • NM_001378471.1:c.1484G>A
  • NM_001378472.1:c.1439G>A
  • NM_001378473.1:c.1439G>A
  • NM_001378474.1:c.1595G>A
  • NM_001378475.1:c.1331G>A
  • NM_004333.6:c.1595G>AMANE SELECT
  • NP_001341538.1:p.Cys532Tyr
  • NP_001361173.1:p.Cys572Tyr
  • NP_001361187.1:p.Cys572Tyr
  • NP_001365396.1:p.Cys535Tyr
  • NP_001365397.1:p.Cys532Tyr
  • NP_001365398.1:p.Cys510Tyr
  • NP_001365399.1:p.Cys498Tyr
  • NP_001365400.1:p.Cys495Tyr
  • NP_001365401.1:p.Cys480Tyr
  • NP_001365402.1:p.Cys480Tyr
  • NP_001365403.1:p.Cys532Tyr
  • NP_001365404.1:p.Cys444Tyr
  • NP_004324.2:p.Cys532Tyr
  • LRG_299t1:c.1595G>A
  • LRG_299:g.152754G>A
  • LRG_299p1:p.Cys532Tyr
  • NC_000007.13:g.140476811C>T
  • NM_004333.4:c.1595G>A
Protein change:
C444Y
Links:
dbSNP: rs397507479
NCBI 1000 Genomes Browser:
rs397507479
Molecular consequence:
  • NM_001354609.2:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1715G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1715G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1529G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1439G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1439G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Cardio-facio-cutaneous syndrome
Synonyms:
Cardiofaciocutaneous syndrome; CFC syndrome
Identifiers:
MONDO: MONDO:0015280; MedGen: C1275081; Orphanet: 1340; OMIM: PS115150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000197143Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely pathogenic
(Jul 28, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000197143.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Mar 22, 2025