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NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr) AND Myopathy, reducing body, X-linked, childhood-onset

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2008
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:
RCV000012309.16

Allele description [Variation Report for NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr)]

NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr)

Gene:
FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq26.3
Genomic location:
Preferred name:
NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr)
HGVS:
  • NC_000023.11:g.136207918G>A
  • NG_015895.1:g.65519G>A
  • NM_001159699.2:c.506G>AMANE SELECT
  • NM_001159700.2:c.458G>A
  • NM_001159701.2:c.545G>A
  • NM_001159702.3:c.458G>A
  • NM_001159703.2:c.458G>A
  • NM_001159704.1:c.458G>A
  • NM_001167819.1:c.458G>A
  • NM_001330659.2:c.506G>A
  • NM_001369326.1:c.458G>A
  • NM_001369327.2:c.458G>A
  • NM_001369328.1:c.458G>A
  • NM_001369329.1:c.458G>A
  • NM_001369330.1:c.458G>A
  • NM_001369331.1:c.458G>A
  • NM_001449.5:c.458G>A
  • NP_001153171.1:p.Cys169Tyr
  • NP_001153172.1:p.Cys153Tyr
  • NP_001153173.1:p.Cys182Tyr
  • NP_001153174.1:p.Cys153Tyr
  • NP_001153175.1:p.Cys153Tyr
  • NP_001153176.1:p.Cys153Tyr
  • NP_001161291.1:p.Cys153Tyr
  • NP_001317588.1:p.Cys169Tyr
  • NP_001356255.1:p.Cys153Tyr
  • NP_001356256.1:p.Cys153Tyr
  • NP_001356257.1:p.Cys153Tyr
  • NP_001356258.1:p.Cys153Tyr
  • NP_001356259.1:p.Cys153Tyr
  • NP_001356260.1:p.Cys153Tyr
  • NP_001440.2:p.Cys153Tyr
  • LRG_739t1:c.506G>A
  • LRG_739t2:c.458G>A
  • LRG_739:g.65519G>A
  • LRG_739p1:p.Cys169Tyr
  • LRG_739p2:p.Cys153Tyr
  • NC_000023.10:g.135290077G>A
  • NR_027621.2:n.869G>A
  • Q13642:p.Cys153Tyr
Protein change:
C153Y; CYS153TYR
Links:
UniProtKB: Q13642#VAR_046002; OMIM: 300163.0007; dbSNP: rs122458145
Molecular consequence:
  • NM_001159699.2:c.506G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159700.2:c.458G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159701.2:c.545G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159702.3:c.458G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159703.2:c.458G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159704.1:c.458G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167819.1:c.458G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330659.2:c.506G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369326.1:c.458G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369327.2:c.458G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369328.1:c.458G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369329.1:c.458G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369330.1:c.458G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369331.1:c.458G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001449.5:c.458G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027621.2:n.869G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Myopathy, reducing body, X-linked, childhood-onset (RBMX1B)
Synonyms:
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
Identifiers:
MONDO: MONDO:0010415; MedGen: C4225159; Orphanet: 97239; OMIM: 300718

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000032543OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2008) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG.

J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450.

PubMed [citation]
PMID:
18274675
PMCID:
PMC2242623

Details of each submission

From OMIM, SCV000032543.4

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

Description

In a boy with X-linked reducing myopathy with childhood onset (RBMX1B; 300718), Schessl et al. (2008) identified a 458G-A transition in the FHL1 gene, resulting in a cys153-to-tyr (C153Y) substitution in the second zinc finger of the LIM2 domain. The patient's mother, who was heterozygous for the mutation, was less severely affected. The boy had onset of weakness and rigid spine symptoms at age 10 years, leading to loss of ambulation at age 16. A mutation in the same codon (C153R; 300163.0006) was identified in an unrelated family with the same disorder.

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

Last Updated: Apr 12, 2026

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