NM_005247.2(FGF3):c.317A>G (p.Tyr106Cys) AND Deafness with labyrinthine aplasia microtia and microdontia (LAMM)

Clinical significance:Pathogenic (Last evaluated: Sep 20, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000022693.27

Allele description [Variation Report for NM_005247.2(FGF3):c.317A>G (p.Tyr106Cys)]

NM_005247.2(FGF3):c.317A>G (p.Tyr106Cys)

Gene:
FGF3:fibroblast growth factor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_005247.2(FGF3):c.317A>G (p.Tyr106Cys)
HGVS:
  • NC_000011.10:g.69816327T>C
  • NG_009016.1:g.8098A>G
  • NM_005247.2:c.317A>G
  • NP_005238.1:p.Tyr106Cys
  • NC_000011.9:g.69631095T>C
Protein change:
Y106C; TYR106CYS
Links:
OMIM: 164950.0008; dbSNP: 281860306
NCBI 1000 Genomes Browser:
rs281860306
Molecular consequence:
  • NM_005247.2:c.317A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000043982OMIMno assertion criteria providedPathogenic
(May 1, 2011)
germlineliterature only

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

SCV000054600GeneReviewsno assertion criteria providedpathologic
(Sep 20, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.

Sensi A, Ceruti S, Trevisi P, Gualandi F, Busi M, Donati I, Neri M, Ferlini A, Martini A.

Am J Med Genet A. 2011 May;155A(5):1096-101. doi: 10.1002/ajmg.a.33962. Epub 2011 Apr 7.

PubMed [citation]
PMID:
21480479

Details of each submission

From OMIM, SCV000043982.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an Albanian brother and sister, aged 12 and 9 years, respectively, with microtia, microdontia, and sensorineural hearing loss (610706), Sensi et al. (2011) identified compound heterozygosity for mutations in the FGF3 gene: a 317A-G transition in exon 2, resulting in a tyr106-to-cys (Y106C) substitution at a highly conserved residue, and a 2-bp deletion (457_458delTG; 164950.0009) in exon 3, resulting in a frameshift that was predicted to cause a premature termination codon (Trp153ValfsTer51). The unaffected parents were each heterozygous for 1 of the mutations; neither mutation was found in 50 controls of the same European background. CT scan of the petrous bones revealed bilateral involvement of middle ear as well as inner ear structures in both sibs.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From GeneReviews, SCV000054600.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 14, 2017