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NM_005247.4(FGF3):c.270dup (p.Leu91fs) AND Deafness with labyrinthine aplasia, microtia, and microdontia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 7, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000477891.1

Allele description [Variation Report for NM_005247.4(FGF3):c.270dup (p.Leu91fs)]

NM_005247.4(FGF3):c.270dup (p.Leu91fs)

Gene:
FGF3:fibroblast growth factor 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_005247.4(FGF3):c.270dup (p.Leu91fs)
HGVS:
  • NC_000011.10:g.69816374dup
  • NG_009016.1:g.8051dup
  • NM_005247.4:c.270dupMANE SELECT
  • NP_005238.1:p.Leu91fs
  • LRG_1303t1:c.270dup
  • LRG_1303:g.8051dup
  • LRG_1303p1:p.Leu91fs
  • NC_000011.9:g.69631142dup
Protein change:
L91fs
Links:
dbSNP: rs1554981083
NCBI 1000 Genomes Browser:
rs1554981083
Molecular consequence:
  • NM_005247.4:c.270dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Deafness with labyrinthine aplasia, microtia, and microdontia
Synonyms:
DEAFNESS, CONGENITAL, WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA; Deafness with labyrinthine aplasia microtia and microdontia (LAMM); Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia
Identifiers:
MONDO: MONDO:0012541; MedGen: C1853144; Orphanet: 90024; OMIM: 610706

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536787Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq
no assertion criteria provided
Pathogenic
(Sep 7, 2016) 		paternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536787.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022