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NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter) AND X-linked myopathy with postural muscle atrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 26, 2019
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:
RCV001215729.5

Allele description [Variation Report for NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter)]

NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter)

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.216T>A (p.Tyr72Ter)
HGVS:
  • NC_000023.11:g.136207027T>A
  • NG_015895.1:g.64628T>A
  • NM_001159699.2:c.216T>AMANE SELECT
  • NM_001159700.2:c.168T>A
  • NM_001159701.2:c.255T>A
  • NM_001159702.3:c.168T>A
  • NM_001159703.2:c.168T>A
  • NM_001159704.1:c.168T>A
  • NM_001167819.1:c.168T>A
  • NM_001330659.2:c.216T>A
  • NM_001369326.1:c.168T>A
  • NM_001369327.2:c.168T>A
  • NM_001369328.1:c.168T>A
  • NM_001369329.1:c.168T>A
  • NM_001369330.1:c.168T>A
  • NM_001369331.1:c.168T>A
  • NM_001449.5:c.168T>A
  • NP_001153171.1:p.Tyr72Ter
  • NP_001153172.1:p.Tyr56Ter
  • NP_001153173.1:p.Tyr85Ter
  • NP_001153174.1:p.Tyr56Ter
  • NP_001153175.1:p.Tyr56Ter
  • NP_001153176.1:p.Tyr56Ter
  • NP_001161291.1:p.Tyr56Ter
  • NP_001317588.1:p.Tyr72Ter
  • NP_001356255.1:p.Tyr56Ter
  • NP_001356256.1:p.Tyr56Ter
  • NP_001356257.1:p.Tyr56Ter
  • NP_001356258.1:p.Tyr56Ter
  • NP_001356259.1:p.Tyr56Ter
  • NP_001356260.1:p.Tyr56Ter
  • NP_001440.2:p.Tyr56Ter
  • LRG_739t1:c.216T>A
  • LRG_739t2:c.168T>A
  • LRG_739:g.64628T>A
  • LRG_739p1:p.Tyr72Ter
  • LRG_739p2:p.Tyr56Ter
  • NC_000023.10:g.135289186T>A
  • NM_001449.4:c.168T>A
  • NR_027621.2:n.579T>A
Protein change:
Y56*
Links:
dbSNP: rs2073860048
NCBI 1000 Genomes Browser:
rs2073860048
Molecular consequence:
  • NR_027621.2:n.579T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001159699.2:c.216T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001159700.2:c.168T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001159701.2:c.255T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001159702.3:c.168T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001159703.2:c.168T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001159704.1:c.168T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001167819.1:c.168T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330659.2:c.216T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369326.1:c.168T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369327.2:c.168T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369328.1:c.168T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369329.1:c.168T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369330.1:c.168T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369331.1:c.168T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001449.5:c.168T>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001387490Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jul 26, 2019)
germlineclinical testing

PubMed (6)
[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

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S.

Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004.

PubMed [citation]
PMID:
18179888
PMCID:
PMC2253986

Consequences of mutations within the C terminus of the FHL1 gene.

Schoser B, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C.

Neurology. 2009 Aug 18;73(7):543-51. doi: 10.1212/WNL.0b013e3181b2a4b3.

PubMed [citation]
PMID:
19687455
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001387490.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FHL1 are known to be pathogenic (PMID: 18179888, 19687455, 19716112, 22523091, 24114807). This variant has not been reported in the literature in individuals with FHL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr56*) in the FHL1 gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Sep 29, 2024