NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) AND not provided

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Aug 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000085196.25

Allele description [Variation Report for NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)]

NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)

Gene:

RPE65:retinoid isomerohydrolase RPE65 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.3

Genomic location:

Preferred name:

NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)

Other names:

NM_000329.3(RPE65):c.394G>A

HGVS:

NC_000001.11:g.68444632C>T
NG_008472.2:g.10328G>A
NM_000329.3:c.394G>AMANE SELECT
NP_000320.1:p.Ala132Thr
NC_000001.10:g.68910315C>T
NG_008472.1:g.10328G>A
NM_000329.2:c.394G>A
Q16518:p.Ala132Thr

Protein change:

A132T; ALA132THR

Links:

UniProtKB: Q16518#VAR_017132; OMIM: 180069.0005; dbSNP: rs61752878

NCBI 1000 Genomes Browser:

rs61752878

Molecular consequence:

NM_000329.3:c.394G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

RecName: Full=Stathmin; AltName: Full=Leukemia-associated gene protein; AltName:...
RecName: Full=Stathmin; AltName: Full=Leukemia-associated gene protein; AltName: Full=Leukemia-associated phosphoprotein p18; AltName: Full=Metablastin; AltName: Full=Oncoprotein 18; Short=Op18; AltName: Full=Phosphoprotein p19; Short=pp19; AltName: Full=Prosolin; AltName: Full=Protein Pr22; AltName: Full=pp17
gi|1711560|sp|P54227.2|STMN1_MOUSE

Protein

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
SCV000117333	Retina International	no classification provided	not provided	unknown	not provided
SCV000565494	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Feb 5, 2018)	germline	clinical testing	Citation Link,
SCV003916464	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Aug 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000117333

Retina International

no classification provided

not provided

unknown

not provided

SCV000565494

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Feb 5, 2018)

germline

clinical testing

Citation Link,

SCV003916464

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Aug 1, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	30	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From Retina International, SCV000117333.1

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

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

From GeneDx, SCV000565494.5

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

Description

This variant is associated with the following publications: (PMID: 18722466, 21931134, 11095629, 16150724, 24066033, 9501220, 27535533, 26355662, 26626312)

#	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		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV003916464.13

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	30	not provided	not provided	clinical testing	not provided

Description

RPE65: BS1, BS2

#	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		30	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine