NM_006393.3(NEBL):c.2101C>A (p.Pro701Thr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 8, 2014
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:: RCV000183638.1

Allele description [Variation Report for NM_006393.3(NEBL):c.2101C>A (p.Pro701Thr)]

NM_006393.3(NEBL):c.2101C>A (p.Pro701Thr)

Genes:

LOC126860875:MED14-independent group 3 enhancer GRCh37_chr10:21105746-21106945 [Gene]
NEBL:nebulette [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p12.31

Genomic location:

Preferred name:

NM_006393.3(NEBL):c.2101C>A (p.Pro701Thr)

Other names:

p.P701T:CCA>ACA

HGVS:

NC_000010.11:g.20817647G>T
NG_017092.1:g.361541C>A
NM_001173484.2:c.358-4707C>A
NM_001377322.1:c.358-4707C>A
NM_001377323.1:c.310-4707C>A
NM_001377324.1:c.301-4707C>A
NM_001377325.1:c.292-4707C>A
NM_001377326.1:c.250-4707C>A
NM_001377327.1:c.250-4707C>A
NM_001377328.1:c.250-4707C>A
NM_006393.3:c.2101C>AMANE SELECT
NM_213569.2:c.358-4707C>A
NP_006384.1:p.Pro701Thr
NP_006384.1:p.Pro701Thr
LRG_411t1:c.358-4707C>A
LRG_411t2:c.2101C>A
LRG_411:g.361541C>A
LRG_411p2:p.Pro701Thr
NC_000010.10:g.21106576G>T
NM_006393.2:c.2101C>A

Protein change:

P701T

Links:

dbSNP: rs371551337

NCBI 1000 Genomes Browser:

rs371551337

Molecular consequence:

NM_001173484.2:c.358-4707C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377322.1:c.358-4707C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377323.1:c.310-4707C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377324.1:c.301-4707C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377325.1:c.292-4707C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377326.1:c.250-4707C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377327.1:c.250-4707C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377328.1:c.250-4707C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_213569.2:c.358-4707C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_006393.3:c.2101C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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SRX675177 (1)
SRA
SRX675145 (1)
SRA
Mus musculus cell division cycle associated 3, mRNA (cDNA clone MGC:5778 IMAGE:3...
Mus musculus cell division cycle associated 3, mRNA (cDNA clone MGC:5778 IMAGE:3592108), complete cds
gi|1430745295|gb|BC002006.2|

Nucleotide
LP01384.5prime LP Drosophila melanogaster larval-early pupal pOT2 Drosophila mel...
LP01384.5prime LP Drosophila melanogaster larval-early pupal pOT2 Drosophila melanogaster cDNA clone LP01384 5prime similar to M11744: D.melanogaster 50 kDa protein F1 gene, complete cds, mRNA sequence
gi|3865767|gnl|dbEST|2031326|gb|AI2 .1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000236107	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Oct 8, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000236107

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Oct 8, 2014)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000236107.9

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

Description

p.Pro701Thr (CCA>ACA): c.2101 C>A in exon 21 of the NEBL gene (NM_006393.2). The P701T variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The P701T variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The P701T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is class-conserved within mammals. However, in silico analysis predicts this variant likely does not alter the protein structure/function. Additionally, missense mutations in nearby residues have not been reported, indicating this region of the protein may tolerate change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

#	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

Last Updated: Oct 13, 2024

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