NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 8, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000662320.1

Allele description [Variation Report for NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)]

NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)

Gene:

CLDN19:claudin 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

Preferred name:

NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)

HGVS:

NC_000001.11:g.42735969C>T
NG_008993.1:g.9286G>A
NM_001123395.2:c.535G>A
NM_001185117.2:c.450G>A
NM_148960.3:c.535G>AMANE SELECT
NP_001116867.1:p.Gly179Ser
NP_001172046.1:p.Ala150=
NP_683763.2:p.Gly179Ser
NC_000001.10:g.43201640C>T
NM_148960.2:c.535G>A

Protein change:

G179S

Links:

dbSNP: rs145591298

NCBI 1000 Genomes Browser:

rs145591298

Molecular consequence:

NM_001123395.2:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_148960.3:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001185117.2:c.450G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Nephrocalcinosis
Synonyms:: Hypercalcemic nephropathy
Identifiers:: MONDO: MONDO:0001567; MedGen: C0027709; Human Phenotype Ontology: HP:0000121

Name:: Nephrolithiasis
Identifiers:: MONDO: MONDO:0008171; MedGen: C0392525; Human Phenotype Ontology: HP:0000787

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000784652	Yale Center for Mendelian Genomics, Yale University	no assertion criteria provided	Likely pathogenic (Sep 8, 2017)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000784652

Yale Center for Mendelian Genomics, Yale University

no assertion criteria provided

Likely pathogenic
(Sep 8, 2017)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W, Warejko JK, Widmeier E, Nelson CP, Fathy HM, Gucev Z, Soliman NA, Hashmi S, Halbritter J, Halty M, Kari JA, El-Desoky S, Ferguson MA, et al.

Kidney Int. 2018 Jan;93(1):204-213. doi: 10.1016/j.kint.2017.06.025. Epub 2017 Oct 12.

PubMed [citation]

PMID:: 28893421
PMCID:: PMC5750088

Details of each submission

From Yale Center for Mendelian Genomics, Yale University, SCV000784652.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	literature only	PubMed (1)

#	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		3	not provided	not provided	not provided

Last Updated: Jul 29, 2024

ClinVar

Relating variation to medicine