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NM_001159699.2(FHL1):c.812dup (p.Cys271fs) AND X-linked myopathy with postural muscle atrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 4, 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:
RCV002856794.3

Allele description [Variation Report for NM_001159699.2(FHL1):c.812dup (p.Cys271fs)]

NM_001159699.2(FHL1):c.812dup (p.Cys271fs)

Gene:
FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq26.3
Genomic location:
Preferred name:
NM_001159699.2(FHL1):c.812dup (p.Cys271fs)
HGVS:
  • NC_000023.11:g.136209946dup
  • NG_015895.1:g.67547dup
  • NM_001159699.2:c.812dupMANE SELECT
  • NM_001159700.2:c.764dup
  • NM_001159701.2:c.851dup
  • NM_001159702.3:c.964dup
  • NM_001159703.2:c.577dup
  • NM_001159704.1:c.764dup
  • NM_001167819.1:c.764dup
  • NM_001330659.2:c.625dup
  • NM_001369326.1:c.964dup
  • NM_001369327.2:c.964dup
  • NM_001369328.1:c.964dup
  • NM_001369329.1:c.764dup
  • NM_001369330.1:c.764dup
  • NM_001369331.1:c.764dup
  • NM_001449.5:c.764dup
  • NP_001153171.1:p.Cys271fs
  • NP_001153172.1:p.Cys255fs
  • NP_001153173.1:p.Cys284fs
  • NP_001153174.1:p.Ala322fs
  • NP_001153175.1:p.Ala193fs
  • NP_001153176.1:p.Cys255fs
  • NP_001161291.1:p.Cys255fs
  • NP_001317588.1:p.Ala209fs
  • NP_001356255.1:p.Ala322fs
  • NP_001356256.1:p.Ala322fs
  • NP_001356257.1:p.Ala322fs
  • NP_001356258.1:p.Cys255fs
  • NP_001356259.1:p.Cys255fs
  • NP_001356260.1:p.Cys255fs
  • NP_001440.2:p.Cys255fs
  • LRG_739t1:c.812dup
  • LRG_739t2:c.964dup
  • LRG_739:g.67547dup
  • LRG_739p1:p.Cys271fs
  • LRG_739p2:p.Ala322fs
  • NC_000023.10:g.135292104_135292105insG
  • NC_000023.10:g.135292105dup
  • NR_027621.2:n.1175dup
Protein change:
A193fs
Molecular consequence:
  • NM_001159699.2:c.812dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001159700.2:c.764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001159701.2:c.851dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001159702.3:c.964dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001159703.2:c.577dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001159704.1:c.764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167819.1:c.764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330659.2:c.625dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369326.1:c.964dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369327.2:c.964dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369328.1:c.964dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369329.1:c.764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369330.1:c.764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369331.1:c.764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001449.5:c.764dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027621.2:n.1175dup - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003221026Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 4, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G.

Am J Hum Genet. 2009 Sep;85(3):338-53. doi: 10.1016/j.ajhg.2009.07.015. Epub 2009 Aug 27.

PubMed [citation]
PMID:
19716112
PMCID:
PMC2771595

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.

Friedrich FW, Wilding BR, Reischmann S, Crocini C, Lang P, Charron P, Müller OJ, McGrath MJ, Vollert I, Hansen A, Linke WA, Hengstenberg C, Bonne G, Morner S, Wichter T, Madeira H, Arbustini E, Eschenhagen T, Mitchell CA, Isnard R, Carrier L.

Hum Mol Genet. 2012 Jul 15;21(14):3237-54. doi: 10.1093/hmg/dds157. Epub 2012 Apr 20.

PubMed [citation]
PMID:
22523091
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003221026.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change results in a frameshift in the FHL1 gene (p.Cys255Trpfs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acid(s) of the FHL1 protein and extend the protein by 2 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FHL1 protein in which other variant(s) (p.Cys276Tyr) have been determined to be pathogenic (PMID: 19716112, 22523091, 24634512). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with FHL1-related conditions.

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

Last Updated: Sep 29, 2024