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NM_001159699.2(FHL1):c.360C>G (p.Cys120Trp) AND X-linked myopathy with postural muscle atrophy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 3, 2022
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:
RCV000694773.7

Allele description [Variation Report for NM_001159699.2(FHL1):c.360C>G (p.Cys120Trp)]

NM_001159699.2(FHL1):c.360C>G (p.Cys120Trp)

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.360C>G (p.Cys120Trp)
HGVS:
  • NC_000023.11:g.136207171C>G
  • NG_015895.1:g.64772C>G
  • NM_001159699.2:c.360C>GMANE SELECT
  • NM_001159700.2:c.312C>G
  • NM_001159701.2:c.399C>G
  • NM_001159702.3:c.312C>G
  • NM_001159703.2:c.312C>G
  • NM_001159704.1:c.312C>G
  • NM_001167819.1:c.312C>G
  • NM_001330659.2:c.360C>G
  • NM_001369326.1:c.312C>G
  • NM_001369327.2:c.312C>G
  • NM_001369328.1:c.312C>G
  • NM_001369329.1:c.312C>G
  • NM_001369330.1:c.312C>G
  • NM_001369331.1:c.312C>G
  • NM_001449.5:c.312C>G
  • NP_001153171.1:p.Cys120Trp
  • NP_001153172.1:p.Cys104Trp
  • NP_001153173.1:p.Cys133Trp
  • NP_001153174.1:p.Cys104Trp
  • NP_001153175.1:p.Cys104Trp
  • NP_001153176.1:p.Cys104Trp
  • NP_001161291.1:p.Cys104Trp
  • NP_001317588.1:p.Cys120Trp
  • NP_001356255.1:p.Cys104Trp
  • NP_001356256.1:p.Cys104Trp
  • NP_001356257.1:p.Cys104Trp
  • NP_001356258.1:p.Cys104Trp
  • NP_001356259.1:p.Cys104Trp
  • NP_001356260.1:p.Cys104Trp
  • NP_001440.2:p.Cys104Trp
  • LRG_739t1:c.360C>G
  • LRG_739t2:c.312C>G
  • LRG_739:g.64772C>G
  • LRG_739p1:p.Cys120Trp
  • LRG_739p2:p.Cys104Trp
  • NC_000023.10:g.135289330C>G
  • NM_001449.4:c.312C>G
  • NR_027621.2:n.723C>G
Protein change:
C104W
Links:
dbSNP: rs1277704131
NCBI 1000 Genomes Browser:
rs1277704131
Molecular consequence:
  • NM_001159699.2:c.360C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159700.2:c.312C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159701.2:c.399C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159702.3:c.312C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159703.2:c.312C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159704.1:c.312C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167819.1:c.312C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330659.2:c.360C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369326.1:c.312C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369327.2:c.312C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369328.1:c.312C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369329.1:c.312C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369330.1:c.312C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369331.1:c.312C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001449.5:c.312C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027621.2:n.723C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
X-linked myopathy with postural muscle atrophy
Identifiers:
MONDO: MONDO:0010401; MedGen: C2678055; OMIM: 300696

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000823231Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Feb 3, 2022)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.

Waddell LB, Tran J, Zheng XF, Bönnemann CG, Hu Y, Evesson FJ, Lek M, Arbuckle S, Wang MX, Smith RL, North KN, Clarke NF.

Neuromuscul Disord. 2011 Nov;21(11):776-81. doi: 10.1016/j.nmd.2011.05.007. Epub 2011 Jun 17.

PubMed [citation]
PMID:
21683594
PMCID:
PMC5210217

[Childhood reducing body myopathy caused by FHL1 gene variation in a child].

Wei CJ, Wang ZX, Chang XZ, Lyu JL, Ge L, Fan YB, Zhang YH, Xiong H.

Zhonghua Er Ke Za Zhi. 2020 Feb 2;58(2):147-149. doi: 10.3760/cma.j.issn.0578-1310.2020.02.016. Chinese.

PubMed [citation]
PMID:
32102154
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000823231.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Cys104 amino acid residue in FHL1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21683594, 32102154). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 573175). This variant has not been reported in the literature in individuals affected with FHL1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 104 of the FHL1 protein (p.Cys104Trp).

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

Last Updated: Sep 29, 2024