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NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 18, 2024
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:
RCV003764516.2

Allele description [Variation Report for NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)]

NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)

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.685T>C (p.Phe229Leu)
Other names:
p.F229L:TTT>CTT
HGVS:
  • NC_000006.12:g.52452799T>C
  • NG_016760.1:g.37604T>C
  • NM_001172420.2:c.628T>C
  • NM_018100.4:c.685T>CMANE SELECT
  • NP_001165891.1:p.Phe210Leu
  • NP_060570.2:p.Phe229Leu
  • NC_000006.11:g.52317597T>C
  • NM_018100.3:c.685T>C
  • NR_033327.2:n.754T>C
  • Q5JVL4:p.Phe229Leu
Protein change:
F210L; PHE229LEU
Links:
UniProtKB: Q5JVL4#VAR_023624; OMIM: 608815.0002; dbSNP: rs137852776
NCBI 1000 Genomes Browser:
rs137852776
Molecular consequence:
  • NM_001172420.2:c.628T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018100.4:c.685T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033327.2:n.754T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Absence seizure
Synonyms:
Absence epilepsy
Identifiers:
MONDO: MONDO:0850093; MedGen: C0014553; Orphanet: 1941
Name:
Myoclonic epilepsy, juvenile, susceptibility to, 1
Synonyms:
Myoclonic Epilepsy, Juvenile, 1; EJM1
Identifiers:
MONDO: MONDO:0020752; MedGen: C1850778; OMIM: 254770

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000562692Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Jan 18, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000562692.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024