- This record was updated by the submitter. Please see the current version.
NM_001130965.3(SUN1):c.738G>T (p.Trp246Cys) AND SUN1-related disorder
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 20, 2019
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV003962493.1
Allele description
NM_001130965.3(SUN1):c.738G>T (p.Trp246Cys)
- Gene:
- SUN1:Sad1 and UNC84 domain containing 1 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 7p22.3
- Genomic location:
- Preferred name:
- NM_001130965.3(SUN1):c.738G>T (p.Trp246Cys)
- HGVS:
- NC_000007.14:g.851463G>T
- NM_001130965.3:c.738G>TMANE SELECT
- NM_001171944.2:c.452-487G>T
- NM_001367633.1:c.738G>T
- NM_001367634.1:c.738G>T
- NM_001367635.1:c.392G>T
- NM_001367636.1:c.981G>T
- NM_001367638.1:c.849G>T
- NM_001367639.1:c.282G>T
- NM_001367640.1:c.941-487G>T
- NM_001367641.1:c.1020G>T
- NM_001367642.1:c.743-487G>T
- NM_001367643.1:c.933G>T
- NM_001367644.1:c.672G>T
- NM_001367645.1:c.699G>T
- NM_001367646.1:c.870G>T
- NM_001367647.1:c.783G>T
- NM_001367648.1:c.620-487G>T
- NM_001367649.1:c.783G>T
- NM_001367651.1:c.1152G>T
- NM_001367653.1:c.738G>T
- NM_001367655.1:c.981G>T
- NM_001367658.1:c.88G>T
- NM_001367660.1:c.588G>T
- NM_001367662.1:c.588G>T
- NM_001367664.1:c.849G>T
- NM_001367665.1:c.738G>T
- NM_001367666.1:c.981G>T
- NM_001367667.1:c.699G>T
- NM_001367668.1:c.783G>T
- NM_001367669.1:c.765G>T
- NM_001367670.1:c.588G>T
- NM_001367671.1:c.588G>T
- NM_001367672.1:c.738G>T
- NM_001367673.1:c.870G>T
- NM_001367674.1:c.936G>T
- NM_001367675.1:c.941-487G>T
- NM_001367676.1:c.941-487G>T
- NM_001367677.1:c.1047G>T
- NM_001367678.1:c.1131G>T
- NM_001367679.1:c.699G>T
- NM_001367680.1:c.672G>T
- NM_001367681.1:c.786G>T
- NM_001367682.1:c.1020G>T
- NM_001367683.1:c.822G>T
- NM_001367684.1:c.897G>T
- NM_001367685.1:c.849G>T
- NM_001367686.1:c.593-487G>T
- NM_001367687.1:c.1131G>T
- NM_001367688.1:c.822G>T
- NM_001367689.1:c.699G>T
- NM_001367690.1:c.1052-487G>T
- NM_001367691.1:c.981G>T
- NM_001367692.1:c.1047G>T
- NM_001367693.1:c.933G>T
- NM_001367694.1:c.738G>T
- NM_001367695.1:c.660G>T
- NM_001367696.1:c.849G>T
- NM_001367697.1:c.933G>T
- NM_001367698.1:c.1020G>T
- NM_001367699.1:c.1131G>T
- NM_001367700.1:c.968-487G>T
- NM_001367701.1:c.672G>T
- NM_001367702.1:c.770-487G>T
- NM_001367703.1:c.1131G>T
- NM_001367704.1:c.770-487G>T
- NM_001367705.1:c.1131G>T
- NM_001367706.1:c.870G>T
- NM_001367708.1:c.171G>T
- NM_025154.6:c.509-487G>T
- NP_001124437.1:p.Trp246Cys
- NP_001354562.1:p.Trp246Cys
- NP_001354563.1:p.Trp246Cys
- NP_001354564.1:p.Gly131Val
- NP_001354565.1:p.Trp327Cys
- NP_001354567.1:p.Trp283Cys
- NP_001354568.1:p.Trp94Cys
- NP_001354570.1:p.Trp340Cys
- NP_001354572.1:p.Trp311Cys
- NP_001354573.1:p.Trp224Cys
- NP_001354574.1:p.Trp233Cys
- NP_001354575.1:p.Trp290Cys
- NP_001354576.1:p.Trp261Cys
- NP_001354578.1:p.Trp261Cys
- NP_001354580.1:p.Trp384Cys
- NP_001354582.1:p.Trp246Cys
- NP_001354584.1:p.Trp327Cys
- NP_001354587.1:p.Ala30Ser
- NP_001354589.1:p.Trp196Cys
- NP_001354591.1:p.Trp196Cys
- NP_001354593.1:p.Trp283Cys
- NP_001354594.1:p.Trp246Cys
- NP_001354595.1:p.Trp327Cys
- NP_001354596.1:p.Trp233Cys
- NP_001354597.1:p.Trp261Cys
- NP_001354598.1:p.Trp255Cys
- NP_001354599.1:p.Trp196Cys
- NP_001354600.1:p.Trp196Cys
- NP_001354601.1:p.Trp246Cys
- NP_001354602.1:p.Trp290Cys
- NP_001354603.1:p.Trp312Cys
- NP_001354606.1:p.Trp349Cys
- NP_001354607.1:p.Trp377Cys
- NP_001354608.1:p.Trp233Cys
- NP_001354609.1:p.Trp224Cys
- NP_001354610.1:p.Trp262Cys
- NP_001354611.1:p.Trp340Cys
- NP_001354612.1:p.Trp274Cys
- NP_001354613.1:p.Trp299Cys
- NP_001354614.1:p.Trp283Cys
- NP_001354616.1:p.Trp377Cys
- NP_001354617.1:p.Trp274Cys
- NP_001354618.1:p.Trp233Cys
- NP_001354620.1:p.Trp327Cys
- NP_001354621.1:p.Trp349Cys
- NP_001354622.1:p.Trp311Cys
- NP_001354623.1:p.Trp246Cys
- NP_001354624.1:p.Trp220Cys
- NP_001354625.1:p.Trp283Cys
- NP_001354626.1:p.Trp311Cys
- NP_001354627.1:p.Trp340Cys
- NP_001354628.1:p.Trp377Cys
- NP_001354630.1:p.Trp224Cys
- NP_001354632.1:p.Trp377Cys
- NP_001354634.1:p.Trp377Cys
- NP_001354635.1:p.Trp290Cys
- NP_001354637.1:p.Trp57Cys
- NC_000007.13:g.891100G>T
- NM_001130965.2:c.738G>T
- NR_160281.1:n.789G>T
- NR_160282.1:n.1182G>T
- NR_160283.1:n.890G>T
This HGVS expression did not pass validation- Protein change:
- A30S
- Links:
- dbSNP: rs142011077
- NCBI 1000 Genomes Browser:
- rs142011077
- Molecular consequence:
- NM_001171944.2:c.452-487G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001367640.1:c.941-487G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001367642.1:c.743-487G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001367648.1:c.620-487G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001367675.1:c.941-487G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001367676.1:c.941-487G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001367686.1:c.593-487G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001367690.1:c.1052-487G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001367700.1:c.968-487G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001367702.1:c.770-487G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001367704.1:c.770-487G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_025154.6:c.509-487G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001130965.3:c.738G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367633.1:c.738G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367634.1:c.738G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367635.1:c.392G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367636.1:c.981G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367638.1:c.849G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367639.1:c.282G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367641.1:c.1020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367643.1:c.933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367644.1:c.672G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367645.1:c.699G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367646.1:c.870G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367647.1:c.783G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367649.1:c.783G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367651.1:c.1152G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367653.1:c.738G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367655.1:c.981G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367658.1:c.88G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367660.1:c.588G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367662.1:c.588G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367664.1:c.849G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367665.1:c.738G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367666.1:c.981G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367667.1:c.699G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367668.1:c.783G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367669.1:c.765G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367670.1:c.588G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367671.1:c.588G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367672.1:c.738G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367673.1:c.870G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367674.1:c.936G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367677.1:c.1047G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367678.1:c.1131G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367679.1:c.699G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367680.1:c.672G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367681.1:c.786G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367682.1:c.1020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367683.1:c.822G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367684.1:c.897G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367685.1:c.849G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367687.1:c.1131G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367688.1:c.822G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367689.1:c.699G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367691.1:c.981G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367692.1:c.1047G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367693.1:c.933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367694.1:c.738G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367695.1:c.660G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367696.1:c.849G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367697.1:c.933G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367698.1:c.1020G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367699.1:c.1131G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367701.1:c.672G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367703.1:c.1131G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367705.1:c.1131G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367706.1:c.870G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367708.1:c.171G>T - missense variant - [Sequence Ontology: SO:0001583]
- NR_160281.1:n.789G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_160282.1:n.1182G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_160283.1:n.890G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Name:
- SUN1-related disorder
- Synonyms:
- SUN1-related condition
- Identifiers:
-
E3 ubiquitin-protein ligase NRDP1 isoform 1 [Homo sapiens]
E3 ubiquitin-protein ligase NRDP1 isoform 1 [Homo sapiens]gi|37588861|ref|NP_919340.1|Protein
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV004791201 | PreventionGenetics, part of Exact Sciences | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Feb 20, 2019) | germline | clinical testing |
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
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 PreventionGenetics, part of Exact Sciences, SCV004791201.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
# | 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