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NM_005612.5(REST):c.375T>G (p.Phe125Leu) AND REST-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 14, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004740987.1

Allele description [Variation Report for NM_005612.5(REST):c.375T>G (p.Phe125Leu)]

NM_005612.5(REST):c.375T>G (p.Phe125Leu)

Gene:
REST:RE1 silencing transcription factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_005612.5(REST):c.375T>G (p.Phe125Leu)
HGVS:
  • NC_000004.12:g.56911013T>G
  • NG_029447.1:g.8138T>G
  • NM_001193508.1:c.375T>G
  • NM_001363453.2:c.375T>G
  • NM_005612.5:c.375T>GMANE SELECT
  • NP_001180437.1:p.Phe125Leu
  • NP_001350382.1:p.Phe125Leu
  • NP_005603.3:p.Phe125Leu
  • NC_000004.11:g.57777179T>G
  • NM_005612.4:c.375T>G
Protein change:
F125L
Molecular consequence:
  • NM_001193508.1:c.375T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363453.2:c.375T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005612.5:c.375T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
REST-related disorder
Synonyms:
REST-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005367391PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(May 14, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005367391.1

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

Description

The REST c.375T>G variant is predicted to result in the amino acid substitution p.Phe125Leu. To our knowledge, this variant has not been reported in the literature. It is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 13, 2024