NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 19, 2018
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:: RCV000733863.4

Allele description [Variation Report for NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu)]

NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu)

Gene:

PKHD1:PKHD1 ciliary IPT domain containing fibrocystin/polyductin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p12.3

Genomic location:

Preferred name:

NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu)

HGVS:

NC_000006.12:g.51659674A>C
NG_008753.1:g.432952T>G
NM_138694.4:c.10452T>GMANE SELECT
NP_619639.3:p.Phe3484Leu
NC_000006.11:g.51524472A>C
NM_138694.3:c.10452T>G

Protein change:

F3484L

Links:

dbSNP: rs545701882

NCBI 1000 Genomes Browser:

rs545701882

Molecular consequence:

NM_138694.4:c.10452T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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uncharacterized protein LOC111482129 [Cucurbita maxima]
uncharacterized protein LOC111482129 [Cucurbita maxima]
gi|1280999589|ref|XP_022983562.1|

Protein
protein CYCLOPS-like isoform X2 [Cucumis melo]
protein CYCLOPS-like isoform X2 [Cucumis melo]
gi|659095458|ref|XP_008448591.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000861965	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Jun 19, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000861965

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Uncertain significance
(Jun 19, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000861965.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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