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NM_003072.5(SMARCA4):c.355+5A>T AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 2, 2019
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:
RCV001020585.3

Allele description [Variation Report for NM_003072.5(SMARCA4):c.355+5A>T]

NM_003072.5(SMARCA4):c.355+5A>T

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.355+5A>T
HGVS:
  • NC_000019.10:g.10985410A>T
  • NG_011556.3:g.29479A>T
  • NM_001128844.3:c.355+5A>T
  • NM_001128845.2:c.355+5A>T
  • NM_001128846.2:c.355+5A>T
  • NM_001128847.4:c.355+5A>T
  • NM_001128848.2:c.355+5A>T
  • NM_001128849.3:c.355+5A>T
  • NM_001374457.1:c.355+5A>T
  • NM_001387283.1:c.355+5A>T
  • NM_003072.5:c.355+5A>TMANE SELECT
  • LRG_878t1:c.355+5A>T
  • LRG_878:g.29479A>T
  • NC_000019.9:g.11096086A>T
  • NG_011556.2:g.29489A>T
  • NM_001128849.1:c.355+5A>T
Links:
dbSNP: rs999267729
NCBI 1000 Genomes Browser:
rs999267729
Molecular consequence:
  • NM_001128844.3:c.355+5A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128845.2:c.355+5A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128846.2:c.355+5A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128847.4:c.355+5A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128848.2:c.355+5A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128849.3:c.355+5A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374457.1:c.355+5A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387283.1:c.355+5A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003072.5:c.355+5A>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001182084Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 2, 2019) 		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, SCV001182084.4

#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