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NM_003072.5(SMARCA4):c.4176C>T (p.Ile1392=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 15, 2016
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:
RCV000423994.1

Allele description [Variation Report for NM_003072.5(SMARCA4):c.4176C>T (p.Ile1392=)]

NM_003072.5(SMARCA4):c.4176C>T (p.Ile1392=)

Gene:
SMARCA4:SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_003072.5(SMARCA4):c.4176C>T (p.Ile1392=)
HGVS:
  • NC_000019.10:g.11041312C>T
  • NG_011556.3:g.85381C>T
  • NM_001128844.3:c.4176C>T
  • NM_001128845.2:c.4086C>T
  • NM_001128846.2:c.4086C>T
  • NM_001128847.4:c.4077C>T
  • NM_001128848.2:c.4077C>T
  • NM_001128849.3:c.4272C>T
  • NM_001374457.1:c.4077C>T
  • NM_001387283.1:c.4272C>T
  • NM_003072.5:c.4176C>TMANE SELECT
  • NP_001122316.1:p.Ile1392=
  • NP_001122317.1:p.Ile1362=
  • NP_001122318.1:p.Ile1362=
  • NP_001122319.1:p.Ile1359=
  • NP_001122320.1:p.Ile1359=
  • NP_001122321.1:p.Ile1424=
  • NP_001361386.1:p.Ile1359=
  • NP_001374212.1:p.Ile1424=
  • NP_003063.2:p.Ile1392=
  • LRG_878t1:c.4176C>T
  • LRG_878:g.85381C>T
  • LRG_878p1:p.Ile1392=
  • NC_000019.9:g.11151988C>T
  • NG_011556.2:g.85391C>T
  • NM_001128849.1:c.4272C>T
  • NR_164683.1:n.4566C>T
Links:
dbSNP: rs767494921
NCBI 1000 Genomes Browser:
rs767494921
Molecular consequence:
  • NR_164683.1:n.4566C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001128844.3:c.4176C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128845.2:c.4086C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128846.2:c.4086C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128847.4:c.4077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128848.2:c.4077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128849.3:c.4272C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374457.1:c.4077C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001387283.1:c.4272C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003072.5:c.4176C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000530890GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Aug 15, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000530890.4

#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: Oct 20, 2024