NM_006393.3(NEBL):c.109T>C (p.Leu37=) AND Primary dilated cardiomyopathy

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

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 23, 2024
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:: RCV000226777.11

Allele description

NM_006393.3(NEBL):c.109T>C (p.Leu37=)

Gene:

NEBL:nebulette [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p12.31

Genomic location:

Preferred name:

NM_006393.3(NEBL):c.109T>C (p.Leu37=)

Other names:

p.L37L:TTA>CTA

HGVS:

NC_000010.11:g.20897002A>G
NG_017092.1:g.282186T>C
NM_001173484.2:c.357+64670T>C
NM_001377322.1:c.357+64670T>C
NM_001377323.1:c.309+64670T>C
NM_001377324.1:c.300+64670T>C
NM_001377325.1:c.291+64670T>C
NM_001377326.1:c.249+64670T>C
NM_001377327.1:c.249+64670T>C
NM_001377328.1:c.249+64670T>C
NM_006393.3:c.109T>CMANE SELECT
NM_213569.2:c.357+64670T>C
NP_006384.1:p.Leu37=
NP_006384.1:p.Leu37=
LRG_411t1:c.357+64670T>C
LRG_411t2:c.109T>C
LRG_411:g.282186T>C
LRG_411p2:p.Leu37=
NC_000010.10:g.21185931A>G
NM_001173484.1:c.357+64670T>C
NM_006393.2:c.109T>C
c.109T>C
p.Leu37Leu

Links:

dbSNP: rs140734883

NCBI 1000 Genomes Browser:

rs140734883

Molecular consequence:

NM_001173484.2:c.357+64670T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001377322.1:c.357+64670T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001377323.1:c.309+64670T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001377324.1:c.300+64670T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001377325.1:c.291+64670T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001377326.1:c.249+64670T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001377327.1:c.249+64670T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001377328.1:c.249+64670T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_213569.2:c.357+64670T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_006393.3:c.109T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Primary dilated cardiomyopathy (DCM)
Synonyms:: Dilated Cardiomyopathy
Identifiers:: EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

Recent activity

Clear Turn Off Turn On

Halarchaeum rubridurum strain JCM 16108, whole genome shotgun sequencing project
Halarchaeum rubridurum strain JCM 16108, whole genome shotgun sequencing project
gi|1900965730|dbj|BMOO00000000.1|BM 00000

Nucleotide

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
SCV000289515	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 23, 2024)	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

SCV000289515

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 23, 2024)

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 Invitae, SCV000289515.10

#	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: Sep 16, 2024

ClinVar

Relating variation to medicine