NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala) AND not provided

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

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: May 23, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000730808.12

Allele description

NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)

Gene:

RIPOR2:RHO family interacting cell polarization regulator 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.3

Genomic location:

Preferred name:

NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)

HGVS:

NC_000006.12:g.24806384T>C
NG_051606.1:g.240905A>G
NM_001286445.3:c.3133A>GMANE SELECT
NM_001346031.2:c.3046A>G
NM_001346032.2:c.3046A>G
NM_014722.4:c.3196A>G
NM_014722.5:c.3196A>G
NP_001273374.1:p.Thr1045Ala
NP_001332960.1:p.Thr1016Ala
NP_001332961.1:p.Thr1016Ala
NP_055537.2:p.Thr1066Ala
NC_000006.11:g.24806612T>C
NM_014722.3:c.3196A>G

Protein change:

T1016A

Links:

dbSNP: rs373913240

NCBI 1000 Genomes Browser:

rs373913240

Molecular consequence:

NM_001286445.3:c.3133A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346031.2:c.3046A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346032.2:c.3046A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014722.5:c.3196A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000858572	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Dec 22, 2017)	germline	clinical testing	Citation Link,
SCV001027151	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (May 23, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000858572

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Dec 22, 2017)

germline

clinical testing

Citation Link,

SCV001027151

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(May 23, 2023)

germline

clinical testing

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	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Eurofins Ntd Llc (ga), SCV000858572.1

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

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

From Invitae, SCV001027151.4

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

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

Last Updated: May 19, 2024

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