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NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 12, 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:
RCV000154721.5

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]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000204401Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Likely benign
(Mar 12, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000204401.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

p.Arg113Cys in exon 4 of FHL2: This variant is not expected to have clinical sig nificance because it has been identified in 0.07% (86/125956) of European chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs140148322). ACMG/AMP Criteria Applied: BS1; PP3.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Apr 6, 2024