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:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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cytochrome oxidase subunit 1, partial (mitochondrion) [Triraphis sp. 27 DLJQ-202...
cytochrome oxidase subunit 1, partial (mitochondrion) [Triraphis sp. 27 DLJQ-2021a]
gi|2106369714|gb|UBY46542.1|

Protein
Vascularized Composite Allotransplantation
Vascularized Composite Allotransplantation
Transference of multiple tissues, such as muscle, bone, nerve, and skin, as a functional unit for reconstructive purposes. Blood supply to the transplanted tissues is maintain...<br/>Year introduced: 2014

MeSH
Transplantation, Haploidentical
Transplantation, Haploidentical
Transplantation between individuals who share a partial haplotype match.<br/>Year introduced: 2018

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000057229	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jul 3, 2024)	germline	clinical testing	Citation Link,
SCV000112809	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely pathogenic (Aug 29, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000057229

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jul 3, 2024)

germline

clinical testing

Citation Link,

SCV000112809

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely pathogenic
(Aug 29, 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
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000057229.17

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

#	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

From Eurofins Ntd Llc (ga), SCV000112809.8

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

#	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		1	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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