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

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Jul 2, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000252033.10

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-AS1:PKD1 antisense RNA 1 [Gene - HGNC]
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.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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par-1, isoform S [Drosophila melanogaster]
par-1, isoform S [Drosophila melanogaster]
gi|281363798|ref|NP_001163210.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000305667	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001475255	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Jul 2, 2020)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 15780078, 11115377, 9199561, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000305667

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

clinical testing

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

SCV001475255

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Jul 2, 2020)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, part of Exact Sciences, SCV000305667.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Athena Diagnostics, SCV001475255.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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