NM_017999.5(RNF31):c.2333A>G (p.Tyr778Cys) AND Short stature

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 18, 2001
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:: RCV000736224.1

Allele description [Variation Report for NM_017999.5(RNF31):c.2333A>G (p.Tyr778Cys)]

NM_017999.5(RNF31):c.2333A>G (p.Tyr778Cys)

Gene:

RNF31:ring finger protein 31 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

Preferred name:

NM_017999.5(RNF31):c.2333A>G (p.Tyr778Cys)

HGVS:

NC_000014.9:g.24155442A>G
NG_042234.1:g.13568A>G
NM_001310332.2:c.1880A>G
NM_017999.5:c.2333A>GMANE SELECT
NP_001297261.1:p.Tyr627Cys
NP_060469.4:p.Tyr778Cys
LRG_1315t1:c.2333A>G
LRG_1315:g.13568A>G
LRG_1315p1:p.Tyr778Cys
NC_000014.8:g.24624651A>G
NM_017999.4:c.2333A>G

Protein change:

Y627C

Links:

dbSNP: rs1566615893

NCBI 1000 Genomes Browser:

rs1566615893

Molecular consequence:

NM_001310332.2:c.1880A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_017999.5:c.2333A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Short stature
Identifiers:: MedGen: C0349588; Human Phenotype Ontology: HP:0004322

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000864521	Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	no assertion criteria provided	Likely pathogenic (Nov 18, 2001)	unknown	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000864521

Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

no assertion criteria provided

Likely pathogenic
(Nov 18, 2001)

unknown

case-control

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	case-control

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000864521.1

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

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

Last Updated: Apr 23, 2022

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