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NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2017
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:
RCV000626721.3

Allele description [Variation Report for NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)]

NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)

Gene:
PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)
HGVS:
  • NC_000016.10:g.2119368G>A
  • NG_008617.1:g.21531C>T
  • NM_000296.4:c.226C>T
  • NM_001009944.3:c.226C>TMANE SELECT
  • NP_000287.4:p.His76Tyr
  • NP_001009944.3:p.His76Tyr
  • NC_000016.9:g.2169369G>A
  • NM_001009944.2:c.226C>T
Protein change:
H76Y
Links:
dbSNP: rs932577597
NCBI 1000 Genomes Browser:
rs932577597
Molecular consequence:
  • NM_000296.4:c.226C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001009944.3:c.226C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Hemivertebrae
Identifiers:
MedGen: C0265677; Human Phenotype Ontology: HP:0002937
Name:
Polycystic kidney disease
Synonyms:
Polycystic kidney dysplasia; Kidney, Polycystic
Identifiers:
MONDO: MONDO:0020642; MeSH: D007690; MedGen: C0022680; OMIM: PS173900; Human Phenotype Ontology: HP:0000113
Name:
Atrial septal defect, ostium secundum type
Synonyms:
Secundum atrial septal defect; ASD II
Identifiers:
MONDO: MONDO:0020434; MedGen: C0344724; Human Phenotype Ontology: HP:0001684
Name:
Missing ribs
Identifiers:
MedGen: C0426816; Human Phenotype Ontology: HP:0000921
Name:
Dry skin
Identifiers:
MedGen: C0151908; Human Phenotype Ontology: HP:0000958
Name:
Abnormal nail morphology
Synonyms:
Abnormality of the nail
Identifiers:
MedGen: C0853087; Human Phenotype Ontology: HP:0001597
Name:
Abnormal cortical gyration
Identifiers:
MedGen: C1856019; Human Phenotype Ontology: HP:0002536
Name:
Hyperechogenic kidneys
Synonyms:
echogenic kidneys
Identifiers:
MedGen: C3275899; Human Phenotype Ontology: HP:0004719
Name:
Periventricular heterotopia
Identifiers:
MedGen: C5399973; Human Phenotype Ontology: HP:0007165
Name:
Plantar crease between first and second toes
Identifiers:
MedGen: C1867132; Human Phenotype Ontology: HP:0008107
Name:
Overlapping fingers
Identifiers:
MedGen: C1446712; Human Phenotype Ontology: HP:0010557

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747424Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 1, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747424.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024