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NM_001159699.2(FHL1):c.816C>T (p.Ser272=) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2021
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:
RCV001810666.13

Allele description [Variation Report for NM_001159699.2(FHL1):c.816C>T (p.Ser272=)]

NM_001159699.2(FHL1):c.816C>T (p.Ser272=)

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.816C>T (p.Ser272=)
HGVS:
  • NC_000023.11:g.136209950C>T
  • NG_015895.1:g.67551C>T
  • NM_001159699.2:c.816C>TMANE SELECT
  • NM_001159700.2:c.768C>T
  • NM_001159701.2:c.855C>T
  • NM_001159702.3:c.968C>T
  • NM_001159703.2:c.581C>T
  • NM_001159704.1:c.768C>T
  • NM_001167819.1:c.768C>T
  • NM_001330659.2:c.629C>T
  • NM_001369326.1:c.968C>T
  • NM_001369327.2:c.968C>T
  • NM_001369328.1:c.968C>T
  • NM_001369329.1:c.768C>T
  • NM_001369330.1:c.768C>T
  • NM_001369331.1:c.768C>T
  • NM_001449.5:c.768C>T
  • NP_001153171.1:p.Ser272=
  • NP_001153172.1:p.Ser256=
  • NP_001153173.1:p.Ser285=
  • NP_001153174.1:p.Pro323Leu
  • NP_001153175.1:p.Pro194Leu
  • NP_001153176.1:p.Ser256=
  • NP_001161291.1:p.Ser256=
  • NP_001317588.1:p.Pro210Leu
  • NP_001356255.1:p.Pro323Leu
  • NP_001356256.1:p.Pro323Leu
  • NP_001356257.1:p.Pro323Leu
  • NP_001356258.1:p.Ser256=
  • NP_001356259.1:p.Ser256=
  • NP_001356260.1:p.Ser256=
  • NP_001440.2:p.Ser256=
  • LRG_739t1:c.816C>T
  • LRG_739t2:c.968C>T
  • LRG_739:g.67551C>T
  • LRG_739p1:p.Ser272=
  • LRG_739p2:p.Pro323Leu
  • NC_000023.10:g.135292109C>T
  • NM_001449.4:c.768C>T
  • NR_027621.2:n.1179C>T
Protein change:
P194L
Links:
dbSNP: rs758552293
NCBI 1000 Genomes Browser:
rs758552293
Molecular consequence:
  • NM_001159702.3:c.968C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159703.2:c.581C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330659.2:c.629C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369326.1:c.968C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369327.2:c.968C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369328.1:c.968C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027621.2:n.1179C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001159699.2:c.816C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001159700.2:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001159701.2:c.855C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001159704.1:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001167819.1:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369329.1:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369330.1:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369331.1:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001449.5:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001477626ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)
Uncertain significance
(Apr 27, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001477626.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The FHL1 c.968C>T; p.Pro323Leu variant (rs758552293), also known as c.768C>T; p.Ser256Ser on the predominant transcript NM_001449.4, is not reported in the medical literature but is reported in the Leiden Open Variation Database. This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The proline at codon 323 is weakly conserved, and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Although p.Pro323Leu occurs on only a small proportion (2-3%) of transcripts expressed in heart and skeletal muscle (GTEX database), another variant specific to these transcripts has been reported in two brothers with myopathy and cardiac involvement (Binder 2012 and Schoser 2009). Due to limited information, the clinical significance of the p.Pro323Leu variant is uncertain at this time.

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

Last Updated: Nov 3, 2024