NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu) AND Hereditary cancer-predisposing syndrome

Clinical significance:Benign (Last evaluated: Dec 7, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000210783.1

Allele description [Variation Report for NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu)]

NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu)

Gene:
KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu)
HGVS:
  • NC_000001.11:g.10343234C>T
  • NG_008069.1:g.137529C>T
  • NM_001365951.3:c.3635C>TMANE SELECT
  • NM_001365952.1:c.3635C>T
  • NM_015074.3:c.3497C>T
  • NP_001352880.1:p.Pro1212Leu
  • NP_001352881.1:p.Pro1212Leu
  • NP_055889.2:p.Pro1166Leu
  • LRG_252t1:c.3497C>T
  • LRG_252t2:c.3635C>T
  • LRG_252:g.137529C>T
  • LRG_252p1:p.Pro1166Leu
  • LRG_252p2:p.Pro1212Leu
  • NC_000001.10:g.10403292C>T
Protein change:
P1166L
Links:
dbSNP: rs141224290
NCBI 1000 Genomes Browser:
rs141224290
Molecular consequence:
  • NM_001365951.3:c.3635C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365952.1:c.3635C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015074.3:c.3497C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000267039Vantari Geneticscriteria provided, single submitter
Benign
(Dec 7, 2015)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Vantari Genetics, SCV000267039.1

#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: Oct 30, 2021

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