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NM_001318895.3(FHL2):c.142G>A (p.Gly48Ser) AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 2, 2015
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:
RCV000769831.2

Allele description [Variation Report for NM_001318895.3(FHL2):c.142G>A (p.Gly48Ser)]

NM_001318895.3(FHL2):c.142G>A (p.Gly48Ser)

Gene:
FHL2:four and a half LIM domains 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q12.2
Genomic location:
Preferred name:
NM_001318895.3(FHL2):c.142G>A (p.Gly48Ser)
HGVS:
  • NC_000002.12:g.105386375C>T
  • NG_008844.2:g.57399G>A
  • NM_001039492.3:c.142G>A
  • NM_001318894.1:c.142G>A
  • NM_001318895.3:c.142G>AMANE SELECT
  • NM_001318896.2:c.142G>A
  • NM_001318897.2:c.-26G>A
  • NM_001318898.2:c.-26G>A
  • NM_001318899.2:c.-305G>A
  • NM_001374399.1:c.142G>A
  • NM_001450.4:c.142G>A
  • NM_201555.3:c.142G>A
  • NM_201557.5:c.142G>A
  • NP_001034581.1:p.Gly48Ser
  • NP_001305823.1:p.Gly48Ser
  • NP_001305824.1:p.Gly48Ser
  • NP_001305825.1:p.Gly48Ser
  • NP_001361328.1:p.Gly48Ser
  • NP_001441.4:p.Gly48Ser
  • NP_963849.1:p.Gly48Ser
  • NP_963851.2:p.Gly48Ser
  • LRG_740t1:c.142G>A
  • LRG_740t2:c.142G>A
  • LRG_740t3:c.142G>A
  • LRG_740:g.57399G>A
  • LRG_740p1:p.Gly48Ser
  • LRG_740p2:p.Gly48Ser
  • LRG_740p3:p.Gly48Ser
  • NC_000002.11:g.106002832C>T
  • NM_201555.1:c.142G>A
Protein change:
G48S
Links:
dbSNP: rs777846521
NCBI 1000 Genomes Browser:
rs777846521
Molecular consequence:
  • NM_001318897.2:c.-26G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001318898.2:c.-26G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001318899.2:c.-305G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001039492.3:c.142G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318894.1:c.142G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318895.3:c.142G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318896.2:c.142G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374399.1:c.142G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001450.4:c.142G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201555.3:c.142G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201557.5:c.142G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000901257CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 2, 2015) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000901257.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024