NM_001159699.2(FHL1):c.482_484dup (p.Gly161dup) AND X-linked myopathy with postural muscle atrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 27, 2023
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:: RCV000462272.8

Allele description [Variation Report for NM_001159699.2(FHL1):c.482_484dup (p.Gly161dup)]

NM_001159699.2(FHL1):c.482_484dup (p.Gly161dup)

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.482_484dup (p.Gly161dup)

HGVS:

NC_000023.11:g.136207894_136207896dup
NG_015895.1:g.65495_65497dup
NM_001159699.2:c.482_484dupMANE SELECT
NM_001159700.2:c.434_436dup
NM_001159701.2:c.521_523dup
NM_001159702.3:c.434_436dup
NM_001159703.2:c.434_436dup
NM_001159704.1:c.434_436dup
NM_001167819.1:c.434_436dup
NM_001330659.2:c.482_484dup
NM_001369326.1:c.434_436dup
NM_001369327.2:c.434_436dup
NM_001369328.1:c.434_436dup
NM_001369329.1:c.434_436dup
NM_001369330.1:c.434_436dup
NM_001369331.1:c.434_436dup
NM_001449.5:c.434_436dup
NP_001153171.1:p.Gly161dup
NP_001153172.1:p.Gly145dup
NP_001153173.1:p.Gly174dup
NP_001153174.1:p.Gly145dup
NP_001153175.1:p.Gly145dup
NP_001153176.1:p.Gly145dup
NP_001161291.1:p.Gly145dup
NP_001317588.1:p.Gly161dup
NP_001356255.1:p.Gly145dup
NP_001356256.1:p.Gly145dup
NP_001356257.1:p.Gly145dup
NP_001356258.1:p.Gly145dup
NP_001356259.1:p.Gly145dup
NP_001356260.1:p.Gly145dup
NP_001440.2:p.Gly145dup
LRG_739t1:c.482_484dup
LRG_739t2:c.434_436dup
LRG_739:g.65495_65497dup
LRG_739p1:p.Gly161dup
LRG_739p2:p.Gly145dup
NC_000023.10:g.135290051_135290052insGGG
NC_000023.10:g.135290053_135290055dup
NM_001449.4:c.434_436dupGGG
NR_027621.2:n.845_847dup

Links:

dbSNP: rs1314023088

NCBI 1000 Genomes Browser:

rs1314023088

Molecular consequence:

NM_001159699.2:c.482_484dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001159700.2:c.434_436dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001159701.2:c.521_523dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001159702.3:c.434_436dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001159703.2:c.434_436dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001159704.1:c.434_436dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001167819.1:c.434_436dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001330659.2:c.482_484dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369326.1:c.434_436dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369327.2:c.434_436dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369328.1:c.434_436dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369329.1:c.434_436dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369330.1:c.434_436dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369331.1:c.434_436dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001449.5:c.434_436dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NR_027621.2:n.845_847dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000550948	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 27, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000550948

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 27, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000550948.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant, c.434_436dup, results in the insertion of 1 amino acid(s) of the FHL1 protein (p.Gly145dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FHL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 410318). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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