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NM_003070.5(SMARCA2):c.666_686del (p.Gln232_Gln238del) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 18, 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:
RCV002368608.1

Allele description [Variation Report for NM_003070.5(SMARCA2):c.666_686del (p.Gln232_Gln238del)]

NM_003070.5(SMARCA2):c.666_686del (p.Gln232_Gln238del)

Gene:
SMARCA2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9p24.3
Genomic location:
Preferred name:
NM_003070.5(SMARCA2):c.666_686del (p.Gln232_Gln238del)
HGVS:
  • NC_000009.12:g.2039776_2039796del
  • NG_032162.2:g.64487_64507del
  • NG_115850.1:g.118_138del
  • NM_001289396.2:c.666_686del21
  • NM_001289397.2:c.666_686del
  • NM_003070.5:c.666_686delMANE SELECT
  • NM_139045.4:c.666_686del
  • NP_001276325.1:p.Gln232_Gln238del
  • NP_001276325.1:p.Gln232_Gln238del
  • NP_001276326.1:p.Gln232_Gln238del
  • NP_003061.3:p.Gln232_Gln238del
  • NP_620614.2:p.Gln232_Gln238del
  • LRG_882t1:c.666_686del
  • LRG_882:g.64487_64507del
  • LRG_882p1:p.Gln232_Gln238del
  • NC_000009.11:g.2039776_2039796del
  • NM_001289396.1:c.666_686del
  • NM_003070.3:c.666_686del
  • NM_003070.3:c.666_686del21
Links:
dbSNP: rs748496168
NCBI 1000 Genomes Browser:
rs748496168
Molecular consequence:
  • NM_001289397.2:c.666_686del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_003070.5:c.666_686del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_139045.4:c.666_686del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001289396.2:c.666_686del21 - inframe_indel - [Sequence Ontology: SO:0001820]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002663847Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely benign
(Jun 18, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002663847.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024