NM_003072.5(SMARCA4):c.72_101del (p.Gly25_Pro34del) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 4, 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:: RCV002370857.2

Allele description [Variation Report for NM_003072.5(SMARCA4):c.72_101del (p.Gly25_Pro34del)]

NM_003072.5(SMARCA4):c.72_101del (p.Gly25_Pro34del)

Gene:

SMARCA4:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_003072.5(SMARCA4):c.72_101del (p.Gly25_Pro34del)

HGVS:

NC_000019.10:g.10984223_10984252del
NG_011556.3:g.28292_28321del
NM_001128844.3:c.72_101del
NM_001128845.2:c.72_101del
NM_001128846.2:c.72_101del
NM_001128847.4:c.72_101del
NM_001128848.2:c.72_101del
NM_001128849.3:c.72_101del
NM_001374457.1:c.72_101del
NM_001387283.1:c.72_101del
NM_001411150.1:c.72_101del30
NM_003072.5:c.72_101delMANE SELECT
NP_001122316.1:p.Gly25_Pro34del
NP_001122317.1:p.Gly25_Pro34del
NP_001122318.1:p.Gly25_Pro34del
NP_001122319.1:p.Gly25_Pro34del
NP_001122320.1:p.Gly25_Pro34del
NP_001122321.1:p.Gly25_Pro34del
NP_001361386.1:p.Gly25_Pro34del
NP_001374212.1:p.Gly25_Pro34del
NP_001398079.1:p.Gly25_Pro34del
NP_003063.2:p.Gly25_Pro34del
LRG_878t1:c.72_101del
LRG_878:g.28292_28321del
LRG_878p1:p.Gly25_Pro34del
NC_000019.9:g.11094899_11094928del
NM_001128849.1:c.72_101del30
NR_164683.1:n.248_277del

Molecular consequence:

NM_001128844.3:c.72_101del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001128845.2:c.72_101del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001128846.2:c.72_101del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001128847.4:c.72_101del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001128848.2:c.72_101del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001128849.3:c.72_101del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001374457.1:c.72_101del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001387283.1:c.72_101del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_003072.5:c.72_101del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001411150.1:c.72_101del30 - inframe_indel - [Sequence Ontology: SO:0001820]
NR_164683.1:n.248_277del - 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

Recent activity

Clear Turn Off Turn On

Colletotrichum siamense Regulator of ribosome biosynthesis (RRS1), partial mRNA
Colletotrichum siamense Regulator of ribosome biosynthesis (RRS1), partial mRNA
gi|1919335053|ref|XM_036632296.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002670177	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 4, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002670177

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 4, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002670177.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.72_101del30 variant (also known as p.G25_P34del) is located in coding exon 1 of the SMARCA4 gene. This variant results from an in-frame TGGAGCCATGCTGGGCCCTAGCCCGGGTCC deletion at nucleotide positions 72 to 101. This results in the in-frame deletion of 10 amino acids. This amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

ClinVar

Relating variation to medicine