NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser) AND X-linked scapuloperoneal muscular dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 13, 2018
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:: RCV001336373.1

Allele description [Variation Report for NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser)]

NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser)

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.794G>C (p.Cys265Ser)

HGVS:

NC_000023.11:g.136209928G>C
NG_015895.1:g.67529G>C
NM_001159699.2:c.794G>CMANE SELECT
NM_001159700.2:c.746G>C
NM_001159701.2:c.833G>C
NM_001159702.3:c.946G>C
NM_001159703.2:c.559G>C
NM_001159704.1:c.746G>C
NM_001167819.1:c.746G>C
NM_001330659.2:c.607G>C
NM_001369326.1:c.946G>C
NM_001369327.2:c.946G>C
NM_001369328.1:c.946G>C
NM_001369329.1:c.746G>C
NM_001369330.1:c.746G>C
NM_001369331.1:c.746G>C
NM_001449.5:c.746G>C
NP_001153171.1:p.Cys265Ser
NP_001153172.1:p.Cys249Ser
NP_001153173.1:p.Cys278Ser
NP_001153174.1:p.Ala316Pro
NP_001153175.1:p.Ala187Pro
NP_001153176.1:p.Cys249Ser
NP_001161291.1:p.Cys249Ser
NP_001317588.1:p.Ala203Pro
NP_001356255.1:p.Ala316Pro
NP_001356256.1:p.Ala316Pro
NP_001356257.1:p.Ala316Pro
NP_001356258.1:p.Cys249Ser
NP_001356259.1:p.Cys249Ser
NP_001356260.1:p.Cys249Ser
NP_001440.2:p.Cys249Ser
LRG_739t1:c.794G>C
LRG_739t2:c.946G>C
LRG_739:g.67529G>C
LRG_739p1:p.Cys265Ser
LRG_739p2:p.Ala316Pro
NC_000023.10:g.135292087G>C
NM_001449.4:c.746G>C
NR_027621.2:n.1157G>C

Protein change:

A187P

Links:

dbSNP: rs56391414

NCBI 1000 Genomes Browser:

rs56391414

Molecular consequence:

NM_001159699.2:c.794G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001159700.2:c.746G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001159701.2:c.833G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001159702.3:c.946G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001159703.2:c.559G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001159704.1:c.746G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001167819.1:c.746G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001330659.2:c.607G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369326.1:c.946G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369327.2:c.946G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369328.1:c.946G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369329.1:c.746G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369330.1:c.746G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001369331.1:c.746G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001449.5:c.746G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_027621.2:n.1157G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: X-linked scapuloperoneal muscular dystrophy
Synonyms:: SCAPULOPERONEAL MYOPATHY, FHL1-RELATED; Scapuloperoneal myopathy, X-linked dominant
Identifiers:: MONDO: MONDO:0010400; MedGen: C2678061; Orphanet: 431272; OMIM: 300695

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001529737	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 13, 2018)	maternal	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

SCV001529737

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 13, 2018)

maternal

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	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV001529737.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Sep 29, 2024

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