U.S. flag

An official website of the United States government

NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) AND multiple conditions

Germline classification:
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:
RCV000763123.10

Allele description [Variation Report for NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)]

NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)

Gene:
FGFR3:fibroblast growth factor receptor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)
HGVS:
  • NC_000004.12:g.1806163A>C
  • NG_012632.1:g.17852A>C
  • NM_000142.5:c.1949A>CMANE SELECT
  • NM_001163213.2:c.1955A>C
  • NM_001354809.2:c.1952A>C
  • NM_001354810.2:c.1952A>C
  • NM_022965.4:c.1613A>C
  • NP_000133.1:p.Lys650Thr
  • NP_000133.1:p.Lys650Thr
  • NP_001156685.1:p.Lys652Thr
  • NP_001156685.1:p.Lys652Thr
  • NP_001341738.1:p.Lys651Thr
  • NP_001341739.1:p.Lys651Thr
  • NP_075254.1:p.Lys538Thr
  • LRG_1021t1:c.1949A>C
  • LRG_1021t2:c.1955A>C
  • LRG_1021:g.17852A>C
  • LRG_1021p1:p.Lys650Thr
  • LRG_1021p2:p.Lys652Thr
  • NC_000004.11:g.1807890A>C
  • NM_000142.4:c.1949A>C
  • NM_001163213.1:c.1955A>C
  • NR_148971.2:n.2375A>C
  • p.Lys650Thr
Nucleotide change:
c.1949A>C
Protein change:
K538T
Links:
dbSNP: rs121913105
NCBI 1000 Genomes Browser:
rs121913105
Molecular consequence:
  • NM_000142.5:c.1949A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001163213.2:c.1955A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354809.2:c.1952A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354810.2:c.1952A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022965.4:c.1613A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148971.2:n.2375A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
Unknown function

Condition(s)

Name:
Achondroplasia (ACH)
Synonyms:
Achondroplastic dwarfism
Identifiers:
MONDO: MONDO:0007037; MedGen: C0001080; Orphanet: 15; OMIM: 100800
Name:
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Synonyms:
Camptodactyly, tall stature, and hearing loss syndrome
Identifiers:
MONDO: MONDO:0012504; MedGen: C1864852; Orphanet: 85164; OMIM: 610474
Name:
Cervical cancer
Synonyms:
Cervical cancer, somatic; Cancer of cervix; Cervix cancer
Identifiers:
MONDO: MONDO:0002974; MedGen: C4048328; OMIM: 603956; Human Phenotype Ontology: HP:0030079
Name:
Crouzon syndrome-acanthosis nigricans syndrome
Synonyms:
CROUZONODERMOSKELETAL SYNDROME; Crouzon syndrome with acanthosis nigricans
Identifiers:
MONDO: MONDO:0012833; MedGen: C2677099; Orphanet: 93262; OMIM: 612247
Name:
Levy-Hollister syndrome (LADD)
Synonyms:
LADD syndrome
Identifiers:
MONDO: MONDO:0007872; MedGen: C0265269; Orphanet: 2363; OMIM: PS149730
Name:
Muenke syndrome (MNKES)
Synonyms:
Muenke nonsyndromic coronal craniosynostosis; Syndrome of coronal craniosynostosis
Identifiers:
MONDO: MONDO:0011274; MedGen: C1864436; Orphanet: 53271; OMIM: 602849
Name:
Thanatophoric dysplasia type 1 (TD1)
Synonyms:
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE; LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE
Identifiers:
MONDO: MONDO:0008546; MedGen: C1868678; Orphanet: 1860; Orphanet: 2655; OMIM: 187600
Name:
Thanatophoric dysplasia, type 2 (TD2)
Synonyms:
THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL; Cloverleaf skull with thanatophoric dwarfism; Thanatophoric dysplasia with Kleeblattschaedel
Identifiers:
MONDO: MONDO:0008547; MedGen: C1300257; Orphanet: 2655; OMIM: 187601
Name:
Malignant tumor of urinary bladder
Synonyms:
Urinary bladder cancer; Urinary Bladder Neoplasms; Bladder cancer
Identifiers:
MONDO: MONDO:0001187; MedGen: C0005684; OMIM: 109800
Name:
Hypochondroplasia (HCH)
Identifiers:
MONDO: MONDO:0007793; MedGen: C0410529; Orphanet: 429; OMIM: 146000
Name:
Epidermal nevus
Synonyms:
NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC; Nevus, epidermal, somatic
Identifiers:
MONDO: MONDO:0008093; MedGen: C0334082; Orphanet: 79414; OMIM: 162900; Human Phenotype Ontology: HP:0010816
Name:
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Synonyms:
Severe achondroplasia with developmental delay and acanthosis nigricans; SADDAN dysplasia; Skeleton skin brain syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0014658; MedGen: C2674173; Orphanet: 85165; OMIM: 616482
Name:
Malignant tumor of testis
Synonyms:
Testicular cancer; Cancer of the testes
Identifiers:
MONDO: MONDO:0005447; MedGen: C0153594
Name:
Carcinoma of colon (CRC)
Synonyms:
Colonic carcinoma; Colon carcinoma
Identifiers:
MONDO: MONDO:0002032; MedGen: C0699790

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
SCV000893668Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		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, SCV000893668.1

#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: Apr 20, 2024