NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: May 2, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000200793.2

Allele description [Variation Report for NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)]

NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)

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.21C>G (p.Cys7Trp)
Other names:
p.C7W:TGC>TGG
HGVS:
  • NC_000006.12:g.158158343G>C
  • NG_032889.1:g.14938C>G
  • NM_032861.4:c.21C>GMANE SELECT
  • NP_116250.3:p.Cys7Trp
  • NC_000006.11:g.158579375G>C
  • NM_032861.3:c.21C>G
  • NR_073096.2:n.145C>G
Protein change:
C7W
Links:
dbSNP: rs139301835
NCBI 1000 Genomes Browser:
rs139301835
Molecular consequence:
  • NM_032861.4:c.21C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073096.2:n.145C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000252247GeneDxcriteria provided, single submitter
Likely pathogenic
(May 2, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000252247.8

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

Description

p.Cys7Trp (TGC>TGG): c.21 C>G in exon 2 of the SERAC1 gene (NM_032861.3) A C7W variant that is likely pathogenic was identified in the SERAC1 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The C7W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded.The variant is found in MITONUC-MITOP panel(s).

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

Last Updated: Oct 8, 2021

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