NM_015571.4(SENP6):c.469C>T (p.Arg157Ter) AND multiple conditions

Germline classification:: Likely benign (1 submission)
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:: RCV002285251.3

Allele description [Variation Report for NM_015571.4(SENP6):c.469C>T (p.Arg157Ter)]

NM_015571.4(SENP6):c.469C>T (p.Arg157Ter)

Gene:

SENP6:SUMO specific peptidase 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q14.1

Genomic location:

Preferred name:

NM_015571.4(SENP6):c.469C>T (p.Arg157Ter)

HGVS:

NC_000006.12:g.75640694C>T
NM_001100409.3:c.458+5883C>T
NM_001304792.2:c.458+5883C>T
NM_015571.4:c.469C>TMANE SELECT
NP_056386.2:p.Arg157Ter
NC_000006.11:g.76350410C>T

Protein change:

R157*

Molecular consequence:

NM_001100409.3:c.458+5883C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001304792.2:c.458+5883C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_015571.4:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Epicanthus
Synonyms:: Epicanthal fold
Identifiers:: MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286

Name:: Delayed speech and language development
Identifiers:: MedGen: C0454644; Human Phenotype Ontology: HP:0000750

Name:: Synophrys
Identifiers:: MedGen: C0431447; Human Phenotype Ontology: HP:0000664

Name:: High, narrow palate
Identifiers:: MedGen: C1837404; Human Phenotype Ontology: HP:0002705

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002575070	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	biparental	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

SCV002575070

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

biparental

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	biparental	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV002575070.1

#	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	biparental	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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