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NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 2014
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:
RCV000187355.10

Allele description [Variation Report for NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp)]

NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp)

Gene:
EFHC1:EF-hand domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p12.2
Genomic location:
Preferred name:
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp)
Other names:
p.R51W:CGG>TGG
HGVS:
  • NC_000006.12:g.52424033C>T
  • NG_016760.1:g.8838C>T
  • NM_001172420.2:c.94C>T
  • NM_018100.4:c.151C>TMANE SELECT
  • NP_001165891.1:p.Arg32Trp
  • NP_060570.2:p.Arg51Trp
  • NC_000006.11:g.52288831C>T
  • NM_018100.3:c.151C>T
  • NR_033327.2:n.220C>T
Protein change:
R32W
Links:
dbSNP: rs374661645
NCBI 1000 Genomes Browser:
rs374661645
Molecular consequence:
  • NM_001172420.2:c.94C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018100.4:c.151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033327.2:n.220C>T - 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
SCV000240940GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 29, 2014) 		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, SCV000240940.11

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

Description

The R51W variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R51W variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. This 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. However, this substitution occurs at a position that is not conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The variant is found in EPILEPSY panel(s).

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

Last Updated: Nov 24, 2024