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NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001257266.1

Allele description [Variation Report for NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu)]

NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu)

Gene:
NIPBL:NIPBL cohesin loading factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu)
HGVS:
  • NC_000005.10:g.36975959C>T
  • NG_006987.1:g.104077C>T
  • NG_006987.2:g.104077C>T
  • NM_015384.5:c.1052C>T
  • NM_133433.4:c.1052C>TMANE SELECT
  • NP_056199.2:p.Pro351Leu
  • NP_597677.2:p.Pro351Leu
  • NC_000005.9:g.36976061C>T
  • NM_133433.3:c.1052C>T
Protein change:
P351L
Links:
dbSNP: rs1743394245
NCBI 1000 Genomes Browser:
rs1743394245
Molecular consequence:
  • NM_015384.5:c.1052C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133433.4:c.1052C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Plagiocephaly
Identifiers:
MedGen: C0265529; Human Phenotype Ontology: HP:0001357
Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Vesicoureteral reflux (VUR)
Synonyms:
Vesicoureteric reflux; Vesico-Ureteral Reflux
Identifiers:
MONDO: MONDO:0006007; MedGen: C0042580; Human Phenotype Ontology: HP:0000076
Name:
Horseshoe kidney
Identifiers:
MedGen: C0221353; Human Phenotype Ontology: HP:0000085
Name:
Intellectual disability, mild
Identifiers:
MedGen: C0026106; Human Phenotype Ontology: HP:0001256

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001433810Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Likely pathogenic
(Jan 1, 2016)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]
PMID:
30311386
PMCID:
PMC6188673

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV001433810.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was classified as: Pathogenic. This variant was detected in heterozygous state.

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

Last Updated: Apr 23, 2022

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