NM_001130965.3(SUN1):c.238G>A (p.Ala80Thr) AND Emery-Dreifuss muscular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 18, 2022
- 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:
- RCV001297378.5
Allele description [Variation Report for NM_001130965.3(SUN1):c.238G>A (p.Ala80Thr)]
NM_001130965.3(SUN1):c.238G>A (p.Ala80Thr)
- 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.238G>A (p.Ala80Thr)
- HGVS:
- NC_000007.14:g.838958G>A
- NM_001130965.3:c.238G>AMANE SELECT
- NM_001171944.2:c.238G>A
- NM_001171945.2:c.301G>A
- NM_001171946.2:c.238G>A
- NM_001367633.1:c.238G>A
- NM_001367634.1:c.238G>A
- NM_001367635.1:c.-220G>A
- NM_001367636.1:c.88G>A
- NM_001367637.1:c.88G>A
- NM_001367638.1:c.238G>A
- NM_001367639.1:c.-301-2988G>A
- NM_001367640.1:c.238G>A
- NM_001367641.1:c.238G>A
- NM_001367642.1:c.238G>A
- NM_001367643.1:c.238G>A
- NM_001367644.1:c.88G>A
- NM_001367645.1:c.88G>A
- NM_001367646.1:c.88G>A
- NM_001367647.1:c.88G>A
- NM_001367648.1:c.88G>A
- NM_001367649.1:c.88G>A
- NM_001367651.1:c.457G>A
- NM_001367653.1:c.238G>A
- NM_001367655.1:c.88G>A
- NM_001367658.1:c.-524G>A
- NM_001367660.1:c.88G>A
- NM_001367662.1:c.88G>A
- NM_001367664.1:c.238G>A
- NM_001367665.1:c.238G>A
- NM_001367666.1:c.88G>A
- NM_001367667.1:c.88G>A
- NM_001367668.1:c.88G>A
- NM_001367669.1:c.238G>A
- NM_001367670.1:c.88G>A
- NM_001367671.1:c.88G>A
- NM_001367672.1:c.238G>A
- NM_001367673.1:c.88G>A
- NM_001367674.1:c.238G>A
- NM_001367675.1:c.238G>A
- NM_001367676.1:c.238G>A
- NM_001367677.1:c.238G>A
- NM_001367678.1:c.238G>A
- NM_001367679.1:c.88G>A
- NM_001367680.1:c.88G>A
- NM_001367681.1:c.88G>A
- NM_001367682.1:c.238G>A
- NM_001367683.1:c.238G>A
- NM_001367684.1:c.88G>A
- NM_001367685.1:c.238G>A
- NM_001367686.1:c.88G>A
- NM_001367687.1:c.238G>A
- NM_001367688.1:c.238G>A
- NM_001367689.1:c.88G>A
- NM_001367690.1:c.238G>A
- NM_001367691.1:c.88G>A
- NM_001367692.1:c.238G>A
- NM_001367693.1:c.238G>A
- NM_001367694.1:c.238G>A
- NM_001367695.1:c.78-2988G>A
- NM_001367696.1:c.238G>A
- NM_001367697.1:c.238G>A
- NM_001367698.1:c.238G>A
- NM_001367699.1:c.238G>A
- NM_001367700.1:c.238G>A
- NM_001367701.1:c.88G>A
- NM_001367702.1:c.238G>A
- NM_001367703.1:c.238G>A
- NM_001367704.1:c.238G>A
- NM_001367705.1:c.238G>A
- NM_001367706.1:c.88G>A
- NM_025154.6:c.88G>A
- NP_001124437.1:p.Ala80Thr
- NP_001165415.1:p.Ala80Thr
- NP_001165416.1:p.Ala101Thr
- NP_001165417.1:p.Ala80Thr
- NP_001354562.1:p.Ala80Thr
- NP_001354563.1:p.Ala80Thr
- NP_001354565.1:p.Ala30Thr
- NP_001354566.1:p.Ala30Thr
- NP_001354567.1:p.Ala80Thr
- NP_001354569.1:p.Ala80Thr
- NP_001354570.1:p.Ala80Thr
- NP_001354571.1:p.Ala80Thr
- NP_001354572.1:p.Ala80Thr
- NP_001354573.1:p.Ala30Thr
- NP_001354574.1:p.Ala30Thr
- NP_001354575.1:p.Ala30Thr
- NP_001354576.1:p.Ala30Thr
- NP_001354577.1:p.Ala30Thr
- NP_001354578.1:p.Ala30Thr
- NP_001354580.1:p.Ala153Thr
- NP_001354582.1:p.Ala80Thr
- NP_001354584.1:p.Ala30Thr
- NP_001354589.1:p.Ala30Thr
- NP_001354591.1:p.Ala30Thr
- NP_001354593.1:p.Ala80Thr
- NP_001354594.1:p.Ala80Thr
- NP_001354595.1:p.Ala30Thr
- NP_001354596.1:p.Ala30Thr
- NP_001354597.1:p.Ala30Thr
- NP_001354598.1:p.Ala80Thr
- NP_001354599.1:p.Ala30Thr
- NP_001354600.1:p.Ala30Thr
- NP_001354601.1:p.Ala80Thr
- NP_001354602.1:p.Ala30Thr
- NP_001354603.1:p.Ala80Thr
- NP_001354604.1:p.Ala80Thr
- NP_001354605.1:p.Ala80Thr
- NP_001354606.1:p.Ala80Thr
- NP_001354607.1:p.Ala80Thr
- NP_001354608.1:p.Ala30Thr
- NP_001354609.1:p.Ala30Thr
- NP_001354610.1:p.Ala30Thr
- NP_001354611.1:p.Ala80Thr
- NP_001354612.1:p.Ala80Thr
- NP_001354613.1:p.Ala30Thr
- NP_001354614.1:p.Ala80Thr
- NP_001354615.1:p.Ala30Thr
- NP_001354616.1:p.Ala80Thr
- NP_001354617.1:p.Ala80Thr
- NP_001354618.1:p.Ala30Thr
- NP_001354619.1:p.Ala80Thr
- NP_001354620.1:p.Ala30Thr
- NP_001354621.1:p.Ala80Thr
- NP_001354622.1:p.Ala80Thr
- NP_001354623.1:p.Ala80Thr
- NP_001354625.1:p.Ala80Thr
- NP_001354626.1:p.Ala80Thr
- NP_001354627.1:p.Ala80Thr
- NP_001354628.1:p.Ala80Thr
- NP_001354629.1:p.Ala80Thr
- NP_001354630.1:p.Ala30Thr
- NP_001354631.1:p.Ala80Thr
- NP_001354632.1:p.Ala80Thr
- NP_001354633.1:p.Ala80Thr
- NP_001354634.1:p.Ala80Thr
- NP_001354635.1:p.Ala30Thr
- NP_079430.3:p.Ala30Thr
- NC_000007.13:g.878595G>A
- NR_160281.1:n.289G>A
- NR_160282.1:n.289G>A
- NR_160283.1:n.289G>A
This HGVS expression did not pass validation- Protein change:
- A101T
- Links:
- dbSNP: rs775882448
- NCBI 1000 Genomes Browser:
- rs775882448
- Molecular consequence:
- NM_001367635.1:c.-220G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001367658.1:c.-524G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001367639.1:c.-301-2988G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001367695.1:c.78-2988G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001130965.3:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001171944.2:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001171945.2:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001171946.2:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367633.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367634.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367636.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367637.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367638.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367640.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367641.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367642.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367643.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367644.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367645.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367646.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367647.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367648.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367649.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367651.1:c.457G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367653.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367655.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367660.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367662.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367664.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367665.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367666.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367667.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367668.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367669.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367670.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367671.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367672.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367673.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367674.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367675.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367676.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367677.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367678.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367679.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367680.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367681.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367682.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367683.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367684.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367685.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367686.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367687.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367688.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367689.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367690.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367691.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367692.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367693.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367694.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367696.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367697.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367698.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367699.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367700.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367701.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367702.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367703.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367704.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367705.1:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367706.1:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_025154.6:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
- NR_160281.1:n.289G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_160282.1:n.289G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_160283.1:n.289G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001486390 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Uncertain significance (Mar 18, 2022) | 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
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.
- PMID:
- 28492532
- PMCID:
- PMC5632818
Details of each submission
From Labcorp Genetics (formerly Invitae), Labcorp, SCV001486390.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1001133). This variant has not been reported in the literature in individuals affected with SUN1-related conditions. This variant is present in population databases (rs775882448, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 80 of the SUN1 protein (p.Ala80Thr).
# | 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