NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Jul 2, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000252033.4

Allele description [Variation Report for NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val)]

NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val)

Genes:
PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]
LOC105371049:uncharacterized LOC105371049 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val)
HGVS:
  • NC_000016.10:g.2094179G>C
  • NG_008617.1:g.49042C>G
  • NM_000296.4:c.10528C>G
  • NM_001009944.3:c.10531C>GMANE SELECT
  • NP_000287.4:p.Leu3510Val
  • NP_001009944.3:p.Leu3511Val
  • NC_000016.9:g.2144180G>C
  • NM_000296.3:c.10528C>G
  • NM_001009944.2:c.10531C>G
  • P98161:p.Leu3511Val
Protein change:
L3510V
Links:
UniProtKB: P98161#VAR_010092; dbSNP: rs141946034
NCBI 1000 Genomes Browser:
rs141946034
Molecular consequence:
  • NM_000296.4:c.10528C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001009944.3:c.10531C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000305667PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Likely benigngermlineclinical testing

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

SCV001475255Athena Diagnostics Inccriteria provided, single submitter
Benign
(Jul 2, 2020)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Modifier genes play a significant role in the phenotypic expression of PKD1.

Fain PR, McFann KK, Taylor MR, Tison M, Johnson AM, Reed B, Schrier RW.

Kidney Int. 2005 Apr;67(4):1256-67.

PubMed [citation]
PMID:
15780078
See all PubMed Citations (5)

Details of each submission

From PreventionGenetics,PreventionGenetics, SCV000305667.1

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

From Athena Diagnostics Inc, SCV001475255.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2021

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