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

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Mar 28, 2024
Review status:
no classifications from unflagged records
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:
RCV000187372.2

Allele description [Variation Report for NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter)]

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
No clinical assertions found. See "Flagged submissions" below.
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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000240957GeneDx
flagged submission
Reason: Other
Notes: Flagging candidate with reason of insufficient supporting evidence. This gene has been refuted by a ClinGen Expert Panel.

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

Citation Link

Last Updated: Jul 23, 2024