NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 11, 2022
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:
RCV000197235.3

Allele description [Variation Report for NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)]

NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)

Gene:
SERAC1:serine active site containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.3
Genomic location:
Preferred name:
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)
Other names:
p.R138Q:CGG>CAG
HGVS:
  • NC_000006.12:g.158146856C>T
  • NG_032889.1:g.26425G>A
  • NM_032861.4:c.413G>AMANE SELECT
  • NP_116250.3:p.Arg138Gln
  • NC_000006.11:g.158567888C>T
  • NM_032861.3:c.413G>A
  • NR_073096.2:n.537G>A
Protein change:
R138Q
Links:
dbSNP: rs863224200
NCBI 1000 Genomes Browser:
rs863224200
Molecular consequence:
  • NM_032861.4:c.413G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073096.2:n.537G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000252248GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 11, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000252248.13

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 29, 2024