NM_001159699.2(FHL1):c.436A>G (p.Ser146Gly) AND X-linked myopathy with postural muscle atrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 14, 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:: RCV000230448.7

Allele description [Variation Report for NM_001159699.2(FHL1):c.436A>G (p.Ser146Gly)]

NM_001159699.2(FHL1):c.436A>G (p.Ser146Gly)

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.436A>G (p.Ser146Gly)

HGVS:

NC_000023.11:g.136207848A>G
NG_015895.1:g.65449A>G
NM_001159699.2:c.436A>GMANE SELECT
NM_001159700.2:c.388A>G
NM_001159701.2:c.475A>G
NM_001159702.3:c.388A>G
NM_001159703.2:c.388A>G
NM_001159704.1:c.388A>G
NM_001167819.1:c.388A>G
NM_001330659.2:c.436A>G
NM_001369326.1:c.388A>G
NM_001369327.2:c.388A>G
NM_001369328.1:c.388A>G
NM_001369329.1:c.388A>G
NM_001369330.1:c.388A>G
NM_001369331.1:c.388A>G
NM_001449.5:c.388A>G
NP_001153171.1:p.Ser146Gly
NP_001153172.1:p.Ser130Gly
NP_001153173.1:p.Ser159Gly
NP_001153174.1:p.Ser130Gly
NP_001153175.1:p.Ser130Gly
NP_001153176.1:p.Ser130Gly
NP_001161291.1:p.Ser130Gly
NP_001317588.1:p.Ser146Gly
NP_001356255.1:p.Ser130Gly
NP_001356256.1:p.Ser130Gly
NP_001356257.1:p.Ser130Gly
NP_001356258.1:p.Ser130Gly
NP_001356259.1:p.Ser130Gly
NP_001356260.1:p.Ser130Gly
NP_001440.2:p.Ser130Gly
LRG_739t1:c.436A>G
LRG_739t2:c.388A>G
LRG_739:g.65449A>G
LRG_739p1:p.Ser146Gly
LRG_739p2:p.Ser130Gly
NC_000023.10:g.135290007A>G
NM_001449.4:c.388A>G
NR_027621.2:n.799A>G

Protein change:

S130G

Links:

dbSNP: rs878854460

NCBI 1000 Genomes Browser:

rs878854460

Molecular consequence:

NM_001159699.2:c.436A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001159700.2:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001159701.2:c.475A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001159702.3:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001159703.2:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001159704.1:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001167819.1:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330659.2:c.436A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369326.1:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369327.2:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369328.1:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369329.1:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369330.1:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369331.1:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001449.5:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_027621.2:n.799A>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000287129	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 14, 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

SCV000287129

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 14, 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, SCV000287129.5

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

Description

This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 130 of the FHL1 protein (p.Ser130Gly). This variant is not present in population databases (gnomAD no frequency). 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: 239008). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.

#	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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