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NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) AND not provided

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Jul 3, 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:
RCV000080902.23

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:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000057229GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Jul 3, 2024) 		germlineclinical testing

Citation Link,

SCV000112809Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Likely pathogenic
(Aug 29, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000057229.17

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported in two individuals with neurodevelopmental disorders from large cohort studies, including one individual in which the variant occurred de novo, but detailed clinical information was not provided on these individuals (PMID: 31785789, 33004838); Reported in an abstract by Spencer et al. (2016) in an individual with features of cardio-facio-cutaneous syndrome, but familial segregation information was not provided Spencer et al. (2016) British Journal of Dermatology. 174:e24e31; Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27478437, 29493581, 33004838, 31785789, 33057194, 35982159)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Eurofins Ntd Llc (ga), SCV000112809.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024