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NM_001330288.2(SMARCC2):c.3055G>A (p.Val1019Met) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 7, 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:
RCV004459734.1

Allele description [Variation Report for NM_001330288.2(SMARCC2):c.3055G>A (p.Val1019Met)]

NM_001330288.2(SMARCC2):c.3055G>A (p.Val1019Met)

Gene:
SMARCC2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.2
Genomic location:
Preferred name:
NM_001330288.2(SMARCC2):c.3055G>A (p.Val1019Met)
HGVS:
  • NC_000012.12:g.56165495C>T
  • NG_047081.1:g.29073G>A
  • NM_001130420.3:c.3055G>A
  • NM_001330288.2:c.3055G>AMANE SELECT
  • NM_003075.5:c.2962G>A
  • NM_139067.4:c.3055G>A
  • NP_001123892.1:p.Val1019Met
  • NP_001317217.1:p.Val1019Met
  • NP_003066.2:p.Val988Met
  • NP_620706.1:p.Val1019Met
  • NC_000012.11:g.56559279C>T
  • NM_003075.3:c.2962G>A
Protein change:
V1019M
Molecular consequence:
  • NM_001130420.3:c.3055G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330288.2:c.3055G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003075.5:c.2962G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139067.4:c.3055G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004954264Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Mar 7, 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, SCV004954264.1

#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: May 7, 2024