NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV001569733.6

Allele description [Variation Report for NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)]

NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)

Gene:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
HGVS:
  • NC_000016.10:g.89761949C>T
  • NG_011706.1:g.59709G>A
  • NM_000135.4:c.2852G>AMANE SELECT
  • NM_001286167.3:c.2852G>A
  • NP_000126.2:p.Arg951Gln
  • NP_001273096.1:p.Arg951Gln
  • LRG_495t1:c.2852G>A
  • LRG_495:g.59709G>A
  • NC_000016.9:g.89828357C>T
  • NM_000135.2:c.2852G>A
Protein change:
R951Q
Links:
dbSNP: rs755922289
NCBI 1000 Genomes Browser:
rs755922289
Molecular consequence:
  • NM_000135.4:c.2852G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286167.3:c.2852G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001793868GeneDxcriteria provided, single submitter
Pathogenic
(Apr 14, 2021)
germlineclinical testing

Citation Link,

SCV001809681Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensusno assertion criteria providedLikely pathogenicgermlineclinical testing

SCV001959168Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

SCV001961640CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Sep 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001793868.1

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

Description

Published functional studies demonstrate a damaging effect: retention in the cytoplasm preventing cells from repairing DNA (Bottega et al,. 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29269525, 22778927, 11063725, 12697994, 28973083, 17924555, 25525159, 24584348, 28102861)

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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001809681.1

#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, SCV001959168.1

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001961640.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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