NM_133259.4(LRPPRC):c.965C>T (p.Ser322Leu) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Mar 10, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001254997.1

Allele description [Variation Report for NM_133259.4(LRPPRC):c.965C>T (p.Ser322Leu)]

NM_133259.4(LRPPRC):c.965C>T (p.Ser322Leu)

Gene:
LRPPRC:leucine rich pentatricopeptide repeat containing [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_133259.4(LRPPRC):c.965C>T (p.Ser322Leu)
HGVS:
  • NC_000002.12:g.43974658G>A
  • NG_008247.1:g.26348C>T
  • NM_133259.4:c.965C>TMANE SELECT
  • NP_573566.2:p.Ser322Leu
  • NC_000002.11:g.44201797G>A
  • NM_133259.3:c.965C>T
Protein change:
S322L
Molecular consequence:
  • NM_133259.4:c.965C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Intellectual disability
Synonyms:
Dull intelligence; Low intelligence; Mental deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0001071; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001431086New York Genome Centerno assertion criteria providedUncertain significance
(Mar 10, 2020)
maternalclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV001431086.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided

Last Updated: Aug 17, 2021

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