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NM_003072.5(SMARCA4):c.4254C>A (p.Asp1418Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 10, 2024
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:
RCV002327322.3

Allele description [Variation Report for NM_003072.5(SMARCA4):c.4254C>A (p.Asp1418Glu)]

NM_003072.5(SMARCA4):c.4254C>A (p.Asp1418Glu)

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.4254C>A (p.Asp1418Glu)
HGVS:
  • NC_000019.10:g.11041390C>A
  • NG_011556.2:g.85469C>A
  • NM_001128844.3:c.4254C>A
  • NM_001128845.2:c.4164C>A
  • NM_001128846.2:c.4164C>A
  • NM_001128847.4:c.4155C>A
  • NM_001128848.2:c.4155C>A
  • NM_001128849.3:c.4350C>A
  • NM_001374457.1:c.4155C>A
  • NM_003072.5:c.4254C>AMANE SELECT
  • NP_001122316.1:p.Asp1418Glu
  • NP_001122317.1:p.Asp1388Glu
  • NP_001122318.1:p.Asp1388Glu
  • NP_001122319.1:p.Asp1385Glu
  • NP_001122320.1:p.Asp1385Glu
  • NP_001122321.1:p.Asp1450Glu
  • NP_001361386.1:p.Asp1385Glu
  • NP_003063.2:p.Asp1418Glu
  • LRG_878t1:c.4254C>A
  • LRG_878p1:p.Asp1418Glu
  • NC_000019.9:g.11152066C>A
  • NM_001128849.1:c.4350C>A
  • NR_164683.1:n.4644C>A
Protein change:
D1385E
Links:
dbSNP: rs370380553
NCBI 1000 Genomes Browser:
rs370380553
Molecular consequence:
  • NM_001128844.3:c.4254C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128845.2:c.4164C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128846.2:c.4164C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128847.4:c.4155C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128848.2:c.4155C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128849.3:c.4350C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374457.1:c.4155C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003072.5:c.4254C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164683.1:n.4644C>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
SCV002632206Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 10, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002632206.3

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024