NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Nov 6, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000208197.1

Allele description [Variation Report for NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)]

NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)

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.812G>C (p.Cys271Ser)
HGVS:
  • NC_000023.11:g.136209946G>C
  • NG_015895.1:g.67547G>C
  • NM_001159699.2:c.812G>CMANE SELECT
  • NM_001159700.2:c.764G>C
  • NM_001159701.2:c.851G>C
  • NM_001159702.3:c.964G>C
  • NM_001159703.2:c.577G>C
  • NM_001159704.1:c.764G>C
  • NM_001167819.1:c.764G>C
  • NM_001330659.2:c.625G>C
  • NM_001369326.1:c.964G>C
  • NM_001369327.1:c.964G>C
  • NM_001369328.1:c.964G>C
  • NM_001369329.1:c.764G>C
  • NM_001369330.1:c.764G>C
  • NM_001369331.1:c.764G>C
  • NM_001449.5:c.764G>C
  • NP_001153171.1:p.Cys271Ser
  • NP_001153172.1:p.Cys255Ser
  • NP_001153173.1:p.Cys284Ser
  • NP_001153174.1:p.Ala322Pro
  • NP_001153175.1:p.Ala193Pro
  • NP_001153176.1:p.Cys255Ser
  • NP_001161291.1:p.Cys255Ser
  • NP_001317588.1:p.Ala209Pro
  • NP_001356255.1:p.Ala322Pro
  • NP_001356256.1:p.Ala322Pro
  • NP_001356257.1:p.Ala322Pro
  • NP_001356258.1:p.Cys255Ser
  • NP_001356259.1:p.Cys255Ser
  • NP_001356260.1:p.Cys255Ser
  • NP_001440.2:p.Cys255Ser
  • LRG_739t1:c.812G>C
  • LRG_739t2:c.964G>C
  • LRG_739:g.67547G>C
  • LRG_739p1:p.Cys271Ser
  • LRG_739p2:p.Ala322Pro
  • NC_000023.10:g.135292105G>C
  • NM_001449.4:c.764G>C
  • NR_027621.1:n.1175G>C
Protein change:
A193P
Links:
dbSNP: rs869025431
NCBI 1000 Genomes Browser:
rs869025431
Molecular consequence:
  • NM_001159699.2:c.812G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159700.2:c.764G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159701.2:c.851G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159702.3:c.964G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159703.2:c.577G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159704.1:c.764G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167819.1:c.764G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330659.2:c.625G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369326.1:c.964G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369327.1:c.964G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369328.1:c.964G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369329.1:c.764G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369330.1:c.764G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369331.1:c.764G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001449.5:c.764G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027621.1:n.1175G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:
MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000263935Blueprint Geneticscriteria provided, single submitter
Likely pathogenic
(Nov 6, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000263935.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 23, 2021

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