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NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 17, 2013
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:
RCV000187372.1

Allele description

NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter)

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.1612C>T (p.Arg538Ter)
Other names:
p.R538*:CGA>TGA
HGVS:
  • NC_000006.12:g.52479759C>T
  • NG_016760.1:g.64564C>T
  • NM_001172420.2:c.1555C>T
  • NM_018100.4:c.1612C>TMANE SELECT
  • NP_001165891.1:p.Arg519Ter
  • NP_060570.2:p.Arg538Ter
  • NC_000006.11:g.52344557C>T
  • NM_001172420.1:c.1555C>T
  • NM_018100.3:c.1612C>T
  • NR_033327.2:n.2938C>T
Protein change:
R519*
Links:
dbSNP: rs149998588
NCBI 1000 Genomes Browser:
rs149998588
Molecular consequence:
  • NR_033327.2:n.2938C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001172420.2:c.1555C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_018100.4:c.1612C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000240957GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jan 17, 2013) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000240957.11

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

Description

p.Arg538Stop (CGA>TGA): c.1612 C>T in exon 9 of the EFHC1 gene (NM_018100.3). The Arg538Stop nonsense mutation in the EFHC1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, it is considered a disease-causing mutation. The variant is found in EPILEPSY panel(s).

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

Last Updated: Feb 4, 2024