NM_006393.3(NEBL):c.1272A>G (p.Gly424=) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Feb 11, 2022
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:: RCV000156227.5

Allele description [Variation Report for NM_006393.3(NEBL):c.1272A>G (p.Gly424=)]

NM_006393.3(NEBL):c.1272A>G (p.Gly424=)

Gene:

NEBL:nebulette [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p12.31

Genomic location:

Preferred name:

NM_006393.3(NEBL):c.1272A>G (p.Gly424=)

HGVS:

NC_000010.11:g.20840805T>C
NG_017092.1:g.338383A>G
NM_001173484.2:c.358-27865A>G
NM_001377322.1:c.358-27865A>G
NM_001377323.1:c.310-27865A>G
NM_001377324.1:c.301-27865A>G
NM_001377325.1:c.292-27865A>G
NM_001377326.1:c.250-27865A>G
NM_001377327.1:c.250-27865A>G
NM_001377328.1:c.250-27865A>G
NM_006393.3:c.1272A>GMANE SELECT
NM_213569.2:c.358-27865A>G
NP_006384.1:p.Gly424=
NP_006384.1:p.Gly424=
LRG_411t1:c.358-27865A>G
LRG_411t2:c.1272A>G
LRG_411:g.338383A>G
LRG_411p2:p.Gly424=
NC_000010.10:g.21129734T>C
NM_006393.2:c.1272A>G
p.Gly424Gly

Links:

dbSNP: rs727504866

NCBI 1000 Genomes Browser:

rs727504866

Molecular consequence:

NM_001173484.2:c.358-27865A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001377322.1:c.358-27865A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001377323.1:c.310-27865A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001377324.1:c.301-27865A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001377325.1:c.292-27865A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001377326.1:c.250-27865A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001377327.1:c.250-27865A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001377328.1:c.250-27865A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_213569.2:c.358-27865A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_006393.3:c.1272A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000205943	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Dec 20, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002682907	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Feb 11, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000205943

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Dec 20, 2013)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002682907

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Feb 11, 2022)

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

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000205943.5

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

Description

Gly424Gly in exon 13 of NEBL: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Gly424Gly in exon 13 of NEBL (allele frequenc y = n/a)

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

From Ambry Genetics, SCV002682907.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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 16, 2025

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