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

Clinical significance:Benign/Likely benign (Last evaluated: Jul 27, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
6 submissions [Details]
Record status:
current
Accession:
RCV000429398.8

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000525206GeneDxcriteria provided, single submitter
Benign
(Jul 27, 2016)
germlineclinical testing

Citation Link,

SCV000594777Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Likely benign
(Apr 29, 2016)
germlineclinical testing

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

SCV001742720Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical testing

SCV001925776Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

SCV001952778Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

SCV001964455Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot 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 GeneDx, SCV000525206.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Genetic Services Laboratory,University of Chicago, SCV000594777.1

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001742720.3

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

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001925776.1

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

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001952778.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001964455.1

#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: Oct 30, 2021

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