NM_004646.4(NPHS1):c.1638T>G (p.Thr546=) AND Finnish congenital nephrotic syndrome

Clinical significance:Likely benign (Last evaluated: Nov 11, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001277291.1

Allele description [Variation Report for NM_004646.4(NPHS1):c.1638T>G (p.Thr546=)]

NM_004646.4(NPHS1):c.1638T>G (p.Thr546=)

Gene:
NPHS1:NPHS1 adhesion molecule, nephrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=)
HGVS:
  • NC_000019.10:g.35845788A>C
  • NG_013356.2:g.28500T>G
  • NM_004646.3:c.1638T>G
  • NM_004646.4:c.1638T>GMANE SELECT
  • NP_004637.1:p.Thr546=
  • NP_004637.1:p.Thr546=
  • LRG_693t1:c.1638T>G
  • LRG_693:g.28500T>G
  • LRG_693p1:p.Thr546=
  • NC_000019.9:g.36336690A>C
Links:
dbSNP: rs115444936
NCBI 1000 Genomes Browser:
rs115444936
Molecular consequence:
  • NM_004646.3:c.1638T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004646.4:c.1638T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001464213Natera, Inc.no assertion criteria providedLikely benign
(Nov 11, 2019)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001464213.1

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

Last Updated: Nov 20, 2021

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