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NM_001159699.2(FHL1):c.29C>G (p.Ser10Cys) AND X-linked scapuloperoneal muscular dystrophy

Germline classification:
Uncertain significance (1 submission)
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:
RCV001007860.1

Allele description [Variation Report for NM_001159699.2(FHL1):c.29C>G (p.Ser10Cys)]

NM_001159699.2(FHL1):c.29C>G (p.Ser10Cys)

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.29C>G (p.Ser10Cys)
HGVS:
  • NC_000023.11:g.136206413C>G
  • NG_015895.1:g.64014C>G
  • NM_001159699.2:c.29C>GMANE SELECT
  • NM_001159700.2:c.-20C>G
  • NM_001159701.2:c.68C>G
  • NM_001159702.3:c.-20C>G
  • NM_001159703.2:c.-20C>G
  • NM_001159704.1:c.-20C>G
  • NM_001167819.1:c.-20C>G
  • NM_001330659.2:c.29C>G
  • NM_001369326.1:c.-20C>G
  • NM_001369327.2:c.-20C>G
  • NM_001369328.1:c.-20C>G
  • NM_001369329.1:c.-20C>G
  • NM_001369330.1:c.-20C>G
  • NM_001369331.1:c.-20C>G
  • NM_001449.5:c.-20C>G
  • NP_001153171.1:p.Ser10Cys
  • NP_001153173.1:p.Ser23Cys
  • NP_001317588.1:p.Ser10Cys
  • LRG_739t1:c.29C>G
  • LRG_739t2:c.-20C>G
  • LRG_739:g.64014C>G
  • LRG_739p1:p.Ser10Cys
  • NC_000023.10:g.135288572C>G
  • NM_001159699.1:c.29C>G
  • NR_027621.2:n.392C>G
Protein change:
S10C
Links:
dbSNP: rs1603270381
NCBI 1000 Genomes Browser:
rs1603270381
Molecular consequence:
  • NM_001159700.2:c.-20C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001159702.3:c.-20C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001159703.2:c.-20C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001159704.1:c.-20C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167819.1:c.-20C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369326.1:c.-20C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369327.2:c.-20C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369328.1:c.-20C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369329.1:c.-20C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369330.1:c.-20C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369331.1:c.-20C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001449.5:c.-20C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001159699.2:c.29C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159701.2:c.68C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330659.2:c.29C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027621.2:n.392C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
X-linked scapuloperoneal muscular dystrophy
Synonyms:
SCAPULOPERONEAL MYOPATHY, FHL1-RELATED; Scapuloperoneal myopathy, X-linked dominant
Identifiers:
MONDO: MONDO:0010400; MedGen: C2678061; Orphanet: 431272; OMIM: 300695

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001167558Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Uncertain significanceinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes21not providednot providedyesresearch

Citations

PubMed

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, Aydin H, Torun D, Bozdogan ST, Gezdirici A, Isikay S, Atik MM, Gambin T, Harel T, El-Hattab AW, Charng WL, Pehlivan D, Jhangiani SN, Muzny DM, Karaman A, Celik T, Yuregir OO, Yildirim T, et al.

J Clin Invest. 2016 Feb;126(2):762-78. doi: 10.1172/JCI84457. Epub 2016 Jan 11.

PubMed [citation]
PMID:
26752647
PMCID:
PMC4731160

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV001167558.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providedyesresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not provided1not provided

Last Updated: Sep 17, 2022