NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002496497.1
Allele description [Variation Report for NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)]
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)
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:
- 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
- Name:
- Melanoma, cutaneous malignant, susceptibility to, 1 (CMM1)
- Synonyms:
- Cutaneous malignant melanoma 1; MELANOMA, MALIGNANT; DYSPLASTIC NEVUS SYNDROME, HEREDITARY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007963; MedGen: C1835047; Orphanet: 618; OMIM: 155600
Assertion and evidence details
Last Updated: Apr 6, 2024