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NM_018100.4(EFHC1):c.1907G>A (p.Arg636His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 8, 2015
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:
RCV000187381.1

Allele description [Variation Report for NM_018100.4(EFHC1):c.1907G>A (p.Arg636His)]

NM_018100.4(EFHC1):c.1907G>A (p.Arg636His)

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.1907G>A (p.Arg636His)
Other names:
p.R636H:CGT>CAT
HGVS:
  • NC_000006.12:g.52492325G>A
  • NG_016760.1:g.77130G>A
  • NM_001172420.2:c.1850G>A
  • NM_018100.4:c.1907G>AMANE SELECT
  • NP_001165891.1:p.Arg617His
  • NP_060570.2:p.Arg636His
  • NC_000006.11:g.52357123G>A
  • NM_018100.3:c.1907G>A
  • NR_033327.2:n.3233G>A
Protein change:
R617H
Links:
dbSNP: rs745406233
NCBI 1000 Genomes Browser:
rs745406233
Molecular consequence:
  • NM_001172420.2:c.1850G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018100.4:c.1907G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033327.2:n.3233G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000240966GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 8, 2015) 		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, SCV000240966.10

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

Description

p.Arg636His (CGT>CAT): c.1907 G>A in exon 11 of the EFHC1 gene (NM_018100.3). The R636H variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across mammals although Histidine is observed at this position in evolution. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the R636H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).

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

Last Updated: Aug 11, 2024