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NM_004646.4(NPHS1):c.809dup (p.Gly270_Asn271insTer) AND Finnish congenital nephrotic syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 27, 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:
RCV000664995.1

Allele description [Variation Report for NM_004646.4(NPHS1):c.809dup (p.Gly270_Asn271insTer)]

NM_004646.4(NPHS1):c.809dup (p.Gly270_Asn271insTer)

Gene:
NPHS1:NPHS1 adhesion molecule, nephrin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_004646.4(NPHS1):c.809dup (p.Gly270_Asn271insTer)
HGVS:
  • NC_000019.10:g.35849271dup
  • NG_013356.2:g.25021dup
  • NG_051206.1:g.2637dup
  • NM_004646.4:c.809dupMANE SELECT
  • NP_004637.1:p.Gly270_Asn271insTer
  • LRG_693:g.25021dup
  • NC_000019.9:g.36340173dup
  • NM_004646.3:c.809dupG
Links:
dbSNP: rs1555763503
NCBI 1000 Genomes Browser:
rs1555763503
Molecular consequence:
  • NM_004646.4:c.809dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Finnish congenital nephrotic syndrome (NPHS1)
Synonyms:
NEPHROTIC SYNDROME, TYPE 1; Nephrosis 1, congenital, Finnish type; Congenital nephrotic syndrome 1
Identifiers:
MONDO: MONDO:0009732; MedGen: C0403399; Orphanet: 839; OMIM: 256300

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000789045Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Dec 27, 2016) 		unknownclinical testing

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, SCV000789045.1

#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: Apr 23, 2022