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NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys) AND Primary dilated cardiomyopathy

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Dec 9, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000546432.11

Allele description [Variation Report for NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys)]

NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys)

Genes:
C2orf49:chromosome 2 open reading frame 49 [Gene - HGNC]
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.337C>T (p.Arg113Cys)
HGVS:
  • NC_000002.12:g.105367734G>A
  • NG_008844.2:g.76040C>T
  • NM_001039492.3:c.337C>T
  • NM_001318894.1:c.337C>T
  • NM_001318895.3:c.337C>TMANE SELECT
  • NM_001318896.2:c.337C>T
  • NM_001318897.2:c.-6C>T
  • NM_001318898.2:c.-6C>T
  • NM_001318899.2:c.13C>T
  • NM_001374399.1:c.337C>T
  • NM_001450.4:c.337C>T
  • NM_201555.3:c.337C>T
  • NM_201557.5:c.337C>T
  • NP_001034581.1:p.Arg113Cys
  • NP_001305823.1:p.Arg113Cys
  • NP_001305824.1:p.Arg113Cys
  • NP_001305825.1:p.Arg113Cys
  • NP_001305828.1:p.Arg5Cys
  • NP_001361328.1:p.Arg113Cys
  • NP_001441.4:p.Arg113Cys
  • NP_963849.1:p.Arg113Cys
  • NP_963851.2:p.Arg113Cys
  • LRG_740t1:c.337C>T
  • LRG_740t2:c.337C>T
  • LRG_740t3:c.337C>T
  • LRG_740:g.76040C>T
  • LRG_740p1:p.Arg113Cys
  • LRG_740p2:p.Arg113Cys
  • LRG_740p3:p.Arg113Cys
  • NC_000002.11:g.105984191G>A
  • NM_201555.1:c.337C>T
  • NM_201557.3:c.337C>T
Protein change:
R113C
Links:
dbSNP: rs140148322
NCBI 1000 Genomes Browser:
rs140148322
Molecular consequence:
  • NM_001318897.2:c.-6C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001318898.2:c.-6C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001039492.3:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318894.1:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318895.3:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318896.2:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318899.2:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374399.1:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001450.4:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201555.3:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201557.5:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000623504Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Dec 9, 2023)
germlineclinical testing

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

SCV000995837Klaassen Lab, Charite University Medicine Berlin
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jul 3, 2019)
germlineresearch

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

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

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
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV000623504.8

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

From Klaassen Lab, Charite University Medicine Berlin, SCV000995837.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024