NM_138694.4(PKHD1):c.2592+56dup AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 21, 2019
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:: RCV001621468.3

Allele description [Variation Report for NM_138694.4(PKHD1):c.2592+56dup]

NM_138694.4(PKHD1):c.2592+56dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

6p12.2

Genomic location:

Preferred name:

NM_138694.4(PKHD1):c.2592+56dup

HGVS:

NC_000006.12:g.52045948dup
NG_008753.1:g.46688dup
NM_138694.4:c.2592+56dupMANE SELECT
NM_170724.3:c.2592+56dup
NC_000006.11:g.51910746dup

Links:

dbSNP: rs58370838

NCBI 1000 Genomes Browser:

rs58370838

Molecular consequence:

NM_138694.4:c.2592+56dup - intron variant - [Sequence Ontology: SO:0001627]
NM_170724.3:c.2592+56dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Neolissochilus hendersoni mitochondrion, complete genome
Neolissochilus hendersoni mitochondrion, complete genome
gi|2220672106|gb|OM202514.1|

Nucleotide
Moniezia expansa isolate 2 5.8S ribosomal RNA gene and internal transcribed spac...
Moniezia expansa isolate 2 5.8S ribosomal RNA gene and internal transcribed spacer 2, partial sequence
gi|2214398128|gb|ON112103.1|

Nucleotide
Moniezia expansa clone AbAz-IQ-18 internal transcribed spacer 1 and 5.8S ribosom...
Moniezia expansa clone AbAz-IQ-18 internal transcribed spacer 1 and 5.8S ribosomal RNA gene, partial sequence
gi|2235903208|gb|ON454635.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001843250	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Aug 21, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001843250

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Aug 21, 2019)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001843250.1

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

Last Updated: Dec 24, 2023

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