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NM_003076.5(SMARCD1):c.1282A>G (p.Ile428Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 3, 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:
RCV001266208.4

Allele description [Variation Report for NM_003076.5(SMARCD1):c.1282A>G (p.Ile428Val)]

NM_003076.5(SMARCD1):c.1282A>G (p.Ile428Val)

Gene:
SMARCD1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_003076.5(SMARCD1):c.1282A>G (p.Ile428Val)
HGVS:
  • NC_000012.12:g.50096862A>G
  • NM_003076.5:c.1282A>GMANE SELECT
  • NM_139071.3:c.1270-1852A>G
  • NP_003067.3:p.Ile428Val
  • NC_000012.11:g.50490645A>G
  • NM_003076.4:c.1282A>G
Protein change:
I428V
Links:
dbSNP: rs762849068
NCBI 1000 Genomes Browser:
rs762849068
Molecular consequence:
  • NM_139071.3:c.1270-1852A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003076.5:c.1282A>G - 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
SCV001444380Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 3, 2020) 		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, SCV001444380.4

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

Description

The alteration results in an amino acid change:_x000D_ _x000D_ The c.1282A>G (p.I428V) alteration is located in coding exon 11 of the SMARCD1 gene. This alteration results from a A to G substitution at nucleotide position 1282, causing the isoleucine (I) at amino acid position 428 to be replaced by a valine (V). The alteration is rare in population databases: _x000D_ _x000D_ Based on data from the Genome Aggregation Database (gnomAD), the c.1282A>G alteration was observed in 0.0007% (2/282430) of total alleles studied, with a frequency of 0.0016% (2/129022) in the European (non-Finnish) subpopulation. The altered amino acid is conserved throughout evolution:_x000D_ _x000D_ The p.I428 amino acid is conserved in available vertebrate species. The alteration is predicted tolerated by in silico modeling:_x000D_ _x000D_ The p.I428V alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024