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NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer) AND Autosomal recessive polycystic kidney disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 8, 2016
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:
RCV000410637.2

Allele description [Variation Report for NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer)]

NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer)

Genes:
LOC126859690:MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047 [Gene]
PKHD1:PKHD1 ciliary IPT domain containing fibrocystin/polyductin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
6p12.2
Genomic location:
Preferred name:
NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer)
HGVS:
  • NC_000006.12:g.52024988TA[1]
  • NG_008753.1:g.67636AT[1]
  • NM_138694.4:c.4822_4823delMANE SELECT
  • NM_170724.3:c.4822_4823del
  • NP_619639.3:p.Tyr1607_Ile1608insTer
  • NP_733842.2:p.Tyr1607_Ile1608insTer
  • NC_000006.11:g.51889786TA[1]
  • NM_138694.3:c.4822_4823delAT
Links:
dbSNP: rs1057516626
NCBI 1000 Genomes Browser:
rs1057516626
Molecular consequence:
  • NM_138694.4:c.4822_4823del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_170724.3:c.4822_4823del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autosomal recessive polycystic kidney disease (ARPKD)
Synonyms:
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I; Polycystic kidney disease, infantile type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009889; MeSH: D017044; MedGen: C0085548; Orphanet: 731; Orphanet: 8378

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000485970Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Mar 8, 2016) 		unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000485970.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024