NM_016335.5(PRODH):c.1562= (p.Arg521=) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
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:: RCV000115065.1

Allele description

NM_016335.5(PRODH):c.1562= (p.Arg521=)

Gene:

PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

Preferred name:

NM_016335.5(PRODH):c.1562= (p.Arg521=)

HGVS:

NC_000022.11:g.18913491=
NG_008226.2:g.28063A>G
NG_009052.1:g.12269=
NM_001195226.2:c.1238=
NM_016335.5:c.1562=
NP_001182155.2:p.Arg413=
NP_057419.5:p.Arg521=
NC_000022.10:g.18901004=
NM_005675.5:c.*1802=
NM_016335.4:c.1562A>G

Protein change:

Q521R; GLN521ARG

Links:

OMIM: 606810.0006; dbSNP: rs450046

NCBI 1000 Genomes Browser:

rs450046

Molecular consequence:

NM_001195226.2:c.1238= - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_016335.5:c.1562= - no sequence alteration - [Sequence Ontology: SO:0002073]

Condition(s)

Identifiers:: MedGen: CN517202

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
SCV000148973	Genomic Research Center, Shahid Beheshti University of Medical Sciences	no assertion criteria provided	pathogenic	inherited	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000148973

Genomic Research Center, Shahid Beheshti University of Medical Sciences

no assertion criteria provided

pathogenic

inherited

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	not provided	not provided	not provided	not provided	52	not provided	literature only

Details of each submission

From Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000148973.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

Description

Converted during submission to Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	not provided	52	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 29, 2019

ClinVar

Relating variation to medicine