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NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 2021
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:
RCV002481061.2

Allele description [Variation Report for NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu)]

NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu)

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.1718C>T (p.Pro573Leu)
HGVS:
  • NC_000004.12:g.1805822C>T
  • NG_012632.1:g.17511C>T
  • NM_000142.5:c.1718C>TMANE SELECT
  • NM_001163213.2:c.1724C>T
  • NM_001354809.2:c.1721C>T
  • NM_001354810.2:c.1721C>T
  • NM_022965.4:c.1382C>T
  • NP_000133.1:p.Pro573Leu
  • NP_001156685.1:p.Pro575Leu
  • NP_001341738.1:p.Pro574Leu
  • NP_001341739.1:p.Pro574Leu
  • NP_075254.1:p.Pro461Leu
  • LRG_1021t1:c.1718C>T
  • LRG_1021:g.17511C>T
  • NC_000004.11:g.1807549C>T
  • NM_000142.4:c.1718C>T
  • NR_148971.2:n.2144C>T
Protein change:
P461L
Links:
dbSNP: rs745848425
NCBI 1000 Genomes Browser:
rs745848425
Molecular consequence:
  • NM_000142.5:c.1718C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001163213.2:c.1724C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354809.2:c.1721C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354810.2:c.1721C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022965.4:c.1382C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148971.2:n.2144C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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:
Colorectal cancer
Synonyms:
Colorectal cancer, somatic; Malignant Colorectal Neoplasm
Identifiers:
MONDO: MONDO:0005575; MedGen: C0346629; OMIM: 114500
Name:
Germ cell tumor of testis (TGCT)
Synonyms:
GERM CELL TUMOR, SOMATIC; Testicular germ cell tumor
Identifiers:
MONDO: MONDO:0010108; MedGen: C1336708; OMIM: 273300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002787797Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 15, 2021) 		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

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002787797.1

#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: Sep 16, 2024