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NM_021102.4(SPINT2):c.553C>T (p.Arg185Cys) AND Congenital sodium diarrhea

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV003483818.1

Allele description [Variation Report for NM_021102.4(SPINT2):c.553C>T (p.Arg185Cys)]

NM_021102.4(SPINT2):c.553C>T (p.Arg185Cys)

Gene:
SPINT2:serine peptidase inhibitor, Kunitz type 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_021102.4(SPINT2):c.553C>T (p.Arg185Cys)
HGVS:
  • NC_000019.10:g.38290280C>T
  • NG_013372.1:g.30823C>T
  • NM_001166103.2:c.382C>T
  • NM_021102.4:c.553C>TMANE SELECT
  • NP_001159575.1:p.Arg128Cys
  • NP_066925.1:p.Arg185Cys
  • NC_000019.9:g.38780920C>T
  • NM_021102.3:c.553C>T
Protein change:
R128C
Links:
dbSNP: rs781030322
NCBI 1000 Genomes Browser:
rs781030322
Molecular consequence:
  • NM_001166103.2:c.382C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021102.4:c.553C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital sodium diarrhea
Synonyms:
Congenital secretory diarrhea, sodium type
Identifiers:
MONDO: MONDO:0015170; MedGen: C0267663

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228860GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228860.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 02-03-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024