NM_001159699.2(FHL1):c.204+5C>T AND not provided

Clinical significance:Benign (Last evaluated: May 3, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000231045.8

Allele description [Variation Report for NM_001159699.2(FHL1):c.204+5C>T]

NM_001159699.2(FHL1):c.204+5C>T

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.204+5C>T
HGVS:
  • NC_000023.11:g.136206593C>T
  • NG_015895.1:g.64194C>T
  • NM_001159699.2:c.204+5C>TMANE SELECT
  • NM_001159700.2:c.156+5C>T
  • NM_001159701.2:c.243+5C>T
  • NM_001159702.3:c.156+5C>T
  • NM_001159703.2:c.156+5C>T
  • NM_001159704.1:c.156+5C>T
  • NM_001167819.1:c.156+5C>T
  • NM_001330659.2:c.204+5C>T
  • NM_001369326.1:c.156+5C>T
  • NM_001369327.2:c.156+5C>T
  • NM_001369328.1:c.156+5C>T
  • NM_001369329.1:c.156+5C>T
  • NM_001369330.1:c.156+5C>T
  • NM_001369331.1:c.156+5C>T
  • NM_001449.5:c.156+5C>T
  • LRG_739t1:c.204+5C>T
  • LRG_739t2:c.156+5C>T
  • LRG_739:g.64194C>T
  • NC_000023.10:g.135288752C>T
  • NM_001449.4:c.156+5C>T
Links:
dbSNP: rs182106777
NCBI 1000 Genomes Browser:
rs182106777
Molecular consequence:
  • NM_001159699.2:c.204+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159700.2:c.156+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159701.2:c.243+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159702.3:c.156+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159703.2:c.156+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159704.1:c.156+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167819.1:c.156+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330659.2:c.204+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369326.1:c.156+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369327.2:c.156+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369328.1:c.156+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369329.1:c.156+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369330.1:c.156+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369331.1:c.156+5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001449.5:c.156+5C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001143920Athena Diagnostics Inccriteria provided, single submitter
Benign
(May 3, 2019)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001799465Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Citations

PubMed

Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.

Ntusi NA, Shaboodien G, Badri M, Gumedze F, Mayosi BM.

Cardiovasc J Afr. 2016 May/Jun;27(3):152-158. doi: 10.5830/CVJA-2015-075.

PubMed [citation]
PMID:
27841901
PMCID:
PMC5101433

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV001143920.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001799465.1

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

Last Updated: Nov 27, 2021

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