NM_001142966.3(GREB1L):c.901G>C (p.Gly301Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 14, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003669049.2

Allele description [Variation Report for NM_001142966.3(GREB1L):c.901G>C (p.Gly301Arg)]

NM_001142966.3(GREB1L):c.901G>C (p.Gly301Arg)

Genes:

GREB1L:GREB1 like retinoic acid receptor coactivator [Gene - OMIM - HGNC]
LOC101927521:uncharacterized LOC101927521 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.1

Genomic location:

Preferred name:

NM_001142966.3(GREB1L):c.901G>C (p.Gly301Arg)

HGVS:

NC_000018.10:g.21439589G>C
NM_001142966.3:c.901G>CMANE SELECT
NM_001410867.1:c.1030G>C
NM_001410868.1:c.901G>C
NP_001136438.1:p.Gly301Arg
NP_001397796.1:p.Gly344Arg
NP_001397797.1:p.Gly301Arg
NC_000018.9:g.19019550G>C

Protein change:

G301R

Molecular consequence:

NM_001142966.3:c.901G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001410867.1:c.1030G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001410868.1:c.901G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: Mus musculus PHD finger protein 24 (Phf24), transcript variant X9, mR...
PREDICTED: Mus musculus PHD finger protein 24 (Phf24), transcript variant X9, mRNA
gi|1720408185|ref|XM_030253411.1|

Nucleotide
Homo sapiens cytosolic leucine-rich protein mRNA, complete cds
Homo sapiens cytosolic leucine-rich protein mRNA, complete cds
gi|18028487|gb|AF331041.1|

Nucleotide
RecName: Full=PHD finger protein 24
RecName: Full=PHD finger protein 24
gi|73621117|sp|Q80TL4.2|PHF24_MOUSE

Protein
RecName: Full=NADH-ubiquinone oxidoreductase chain 6; AltName: Full=NADH dehydro...
RecName: Full=NADH-ubiquinone oxidoreductase chain 6; AltName: Full=NADH dehydrogenase subunit 6
gi|3122559|sp|O21336.1|NU6M_DASNO

Protein
Mixture/Component Compounds for PubChem Compound (Select 15927881... (11)
Mixture/Component Compounds for PubChem Compound (Select 159278819)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004399878	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 14, 2022)	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

SCV004399878

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 14, 2022)

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	not provided	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 Labcorp Genetics (formerly Invitae), Labcorp, SCV004399878.1

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with GREB1L-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 301 of the GREB1L protein (p.Gly301Arg).

#	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: Sep 29, 2024

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