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NM_003072.5(SMARCA4):c.4177G>A (p.Glu1393Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 2020
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:
RCV002331585.2

Allele description [Variation Report for NM_003072.5(SMARCA4):c.4177G>A (p.Glu1393Lys)]

NM_003072.5(SMARCA4):c.4177G>A (p.Glu1393Lys)

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.4177G>A (p.Glu1393Lys)
HGVS:
  • NC_000019.10:g.11041313G>A
  • NG_011556.3:g.85382G>A
  • NM_001128844.3:c.4177G>A
  • NM_001128845.2:c.4087G>A
  • NM_001128846.2:c.4087G>A
  • NM_001128847.4:c.4078G>A
  • NM_001128848.2:c.4078G>A
  • NM_001128849.3:c.4273G>A
  • NM_001374457.1:c.4078G>A
  • NM_001387283.1:c.4273G>A
  • NM_003072.5:c.4177G>AMANE SELECT
  • NP_001122316.1:p.Glu1393Lys
  • NP_001122317.1:p.Glu1363Lys
  • NP_001122318.1:p.Glu1363Lys
  • NP_001122319.1:p.Glu1360Lys
  • NP_001122320.1:p.Glu1360Lys
  • NP_001122321.1:p.Glu1425Lys
  • NP_001361386.1:p.Glu1360Lys
  • NP_001374212.1:p.Glu1425Lys
  • NP_003063.2:p.Glu1393Lys
  • LRG_878t1:c.4177G>A
  • LRG_878:g.85382G>A
  • LRG_878p1:p.Glu1393Lys
  • NC_000019.9:g.11151989G>A
  • NG_011556.2:g.85392G>A
  • NM_001128849.1:c.4273G>A
  • NR_164683.1:n.4567G>A
Protein change:
E1360K
Links:
dbSNP: rs752264295
NCBI 1000 Genomes Browser:
rs752264295
Molecular consequence:
  • NM_001128844.3:c.4177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128845.2:c.4087G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128846.2:c.4087G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128847.4:c.4078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128848.2:c.4078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128849.3:c.4273G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374457.1:c.4078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387283.1:c.4273G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003072.5:c.4177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164683.1:n.4567G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002631736Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 29, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002631736.2

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

Description

The p.E1425K variant (also known as c.4273G>A), located in coding exon 30 of the SMARCA4 gene, results from a G to A substitution at nucleotide position 4273. The glutamic acid at codon 1425 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024