U.S. flag

An official website of the United States government

NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 31, 2018
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:
RCV000763165.2

Allele description [Variation Report for NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)]

NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)

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.1743T>A (p.Asn581Lys)
HGVS:
  • NC_000007.14:g.140753392A>T
  • NG_007873.3:g.176373T>A
  • NM_001354609.2:c.1743T>A
  • NM_001374244.1:c.1863T>A
  • NM_001374258.1:c.1863T>A
  • NM_001378467.1:c.1752T>A
  • NM_001378468.1:c.1743T>A
  • NM_001378469.1:c.1677T>A
  • NM_001378470.1:c.1641T>A
  • NM_001378471.1:c.1632T>A
  • NM_001378472.1:c.1587T>A
  • NM_001378473.1:c.1587T>A
  • NM_001378474.1:c.1743T>A
  • NM_001378475.1:c.1479T>A
  • NM_004333.6:c.1743T>AMANE SELECT
  • NP_001341538.1:p.Asn581Lys
  • NP_001361173.1:p.Asn621Lys
  • NP_001361187.1:p.Asn621Lys
  • NP_001365396.1:p.Asn584Lys
  • NP_001365397.1:p.Asn581Lys
  • NP_001365398.1:p.Asn559Lys
  • NP_001365399.1:p.Asn547Lys
  • NP_001365400.1:p.Asn544Lys
  • NP_001365401.1:p.Asn529Lys
  • NP_001365402.1:p.Asn529Lys
  • NP_001365403.1:p.Asn581Lys
  • NP_001365404.1:p.Asn493Lys
  • NP_004324.2:p.Asn581Lys
  • LRG_299t1:c.1743T>A
  • LRG_299:g.176373T>A
  • NC_000007.13:g.140453192A>T
  • NM_004333.4:c.1743T>A
  • c.1743T>A
Protein change:
N493K
Links:
dbSNP: rs397516895
NCBI 1000 Genomes Browser:
rs397516895
Molecular consequence:
  • NM_001354609.2:c.1743T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1863T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1863T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1752T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1743T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1677T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1641T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1632T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1587T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1587T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1743T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1479T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1743T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiofaciocutaneous syndrome 1 (CFC1)
Synonyms:
Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure
Identifiers:
MONDO: MONDO:0007265; MedGen: CN029449; Orphanet: 1340; OMIM: 115150
Name:
Lung carcinoma
Identifiers:
MONDO: MONDO:0005138; MedGen: C0684249
Name:
Noonan syndrome 1 (NS1)
Synonyms:
Turner Syndrome, Male; Turner phenotype with normal karyotype; Female pseudo-Turner syndrome
Identifiers:
MONDO: MONDO:0008104; MedGen: C4551602; Orphanet: 648; OMIM: 163950
Name:
LEOPARD syndrome 3 (LPRD3)
Identifiers:
MONDO: MONDO:0013380; MedGen: C3150971; Orphanet: 500; OMIM: 613707
Name:
Noonan syndrome 7 (NS7)
Identifiers:
MONDO: MONDO:0013379; MedGen: C3150970; Orphanet: 648; OMIM: 613706

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000893752Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 31, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
PMC

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000893752.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024