NM_001128849.2(SMARCA4):c.930C>A (p.Arg310=) AND not specified

Clinical significance:Likely benign (Last evaluated: Oct 2, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000114310.4

Allele description [Variation Report for NM_001128849.2(SMARCA4):c.930C>A (p.Arg310=)]

NM_001128849.2(SMARCA4):c.930C>A (p.Arg310=)

Gene:
SMARCA4:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_001128849.2(SMARCA4):c.930C>A (p.Arg310=)
HGVS:
  • NC_000019.10:g.10987736C>A
  • NG_011556.2:g.31815C>A
  • NM_001128844.2:c.930C>A
  • NM_001128845.1:c.930C>A
  • NM_001128846.1:c.930C>A
  • NM_001128847.3:c.930C>A
  • NM_001128848.1:c.930C>A
  • NM_001128849.2:c.930C>A
  • NM_003072.4:c.930C>A
  • NP_001122316.1:p.Arg310=
  • NP_001122317.1:p.Arg310=
  • NP_001122318.1:p.Arg310=
  • NP_001122319.1:p.Arg310=
  • NP_001122320.1:p.Arg310=
  • NP_001122321.1:p.Arg310=
  • NP_003063.2:p.Arg310=
  • NC_000019.9:g.11098412C>A
  • NM_001128849.1:c.930C>A
Links:
dbSNP: rs146141457
NCBI 1000 Genomes Browser:
rs146141457
Molecular consequence:
  • NM_001128844.2:c.930C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128845.1:c.930C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128846.1:c.930C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128847.3:c.930C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128848.1:c.930C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128849.2:c.930C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003072.4:c.930C>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

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
SCV000147869Genetic Services Laboratory, University of Chicagono assertion criteria providedLikely benigngermlineclinical testing

SCV000518903GeneDxcriteria provided, single submitter
Likely benign
(Oct 2, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000147869.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000518903.4

#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

Last Updated: Jun 14, 2021

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