NM_001130965.3(SUN1):c.1582G>C (p.Gly528Arg) AND Emery-Dreifuss muscular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 22, 2018
- 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:
- RCV000819979.6
Allele description [Variation Report for NM_001130965.3(SUN1):c.1582G>C (p.Gly528Arg)]
NM_001130965.3(SUN1):c.1582G>C (p.Gly528Arg)
- 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.1582G>C (p.Gly528Arg)
- HGVS:
- NC_000007.14:g.860185G>C
- NM_001130965.3:c.1582G>CMANE SELECT
- NM_001171944.2:c.1273G>C
- NM_001367633.1:c.1582G>C
- NM_001367634.1:c.1582G>C
- NM_001367635.1:c.1231G>C
- NM_001367636.1:c.1822G>C
- NM_001367638.1:c.1690G>C
- NM_001367639.1:c.1123G>C
- NM_001367640.1:c.1762G>C
- NM_001367641.1:c.1864G>C
- NM_001367642.1:c.1567G>C
- NM_001367643.1:c.1774G>C
- NM_001367644.1:c.1513G>C
- NM_001367645.1:c.1630G>C
- NM_001367646.1:c.1711G>C
- NM_001367647.1:c.1624G>C
- NM_001367648.1:c.1444G>C
- NM_001367649.1:c.1627G>C
- NM_001367651.1:c.1996G>C
- NM_001367653.1:c.1582G>C
- NM_001367655.1:c.1792G>C
- NM_001367658.1:c.868G>C
- NM_001367660.1:c.1399G>C
- NM_001367662.1:c.1429G>C
- NM_001367664.1:c.1693G>C
- NM_001367665.1:c.1579G>C
- NM_001367666.1:c.1825G>C
- NM_001367667.1:c.1543G>C
- NM_001367668.1:c.1624G>C
- NM_001367669.1:c.1609G>C
- NM_001367670.1:c.1432G>C
- NM_001367671.1:c.1429G>C
- NM_001367672.1:c.1549G>C
- NM_001367673.1:c.1714G>C
- NM_001367674.1:c.1780G>C
- NM_001367675.1:c.1732G>C
- NM_001367676.1:c.1765G>C
- NM_001367677.1:c.1888G>C
- NM_001367678.1:c.1972G>C
- NM_001367679.1:c.1540G>C
- NM_001367680.1:c.1516G>C
- NM_001367681.1:c.1630G>C
- NM_001367682.1:c.1864G>C
- NM_001367683.1:c.1666G>C
- NM_001367684.1:c.1741G>C
- NM_001367685.1:c.1693G>C
- NM_001367686.1:c.1414G>C
- NM_001367688.1:c.1663G>C
- NM_001367689.1:c.1543G>C
- NM_001367690.1:c.1873G>C
- NM_001367691.1:c.1822G>C
- NM_001367692.1:c.1891G>C
- NM_001367693.1:c.1777G>C
- NM_001367694.1:c.1579G>C
- NM_001367695.1:c.1504G>C
- NM_001367696.1:c.1660G>C
- NM_001367697.1:c.1777G>C
- NM_001367698.1:c.1861G>C
- NM_001367699.1:c.1972G>C
- NM_001367700.1:c.1792G>C
- NM_001367701.1:c.1483G>C
- NM_001367702.1:c.1594G>C
- NM_001367703.1:c.1975G>C
- NM_001367704.1:c.1594G>C
- NM_001367705.1:c.1975G>C
- NM_001367706.1:c.1714G>C
- NM_001367708.1:c.1015G>C
- NM_025154.6:c.1333G>C
- NP_001124437.1:p.Gly528Arg
- NP_001165415.1:p.Gly425Arg
- NP_001354562.1:p.Gly528Arg
- NP_001354563.1:p.Gly528Arg
- NP_001354564.1:p.Gly411Arg
- NP_001354565.1:p.Gly608Arg
- NP_001354567.1:p.Gly564Arg
- NP_001354568.1:p.Gly375Arg
- NP_001354569.1:p.Gly588Arg
- NP_001354570.1:p.Gly622Arg
- NP_001354571.1:p.Gly523Arg
- NP_001354572.1:p.Gly592Arg
- NP_001354573.1:p.Gly505Arg
- NP_001354574.1:p.Gly544Arg
- NP_001354575.1:p.Gly571Arg
- NP_001354576.1:p.Gly542Arg
- NP_001354577.1:p.Gly482Arg
- NP_001354578.1:p.Gly543Arg
- NP_001354580.1:p.Gly666Arg
- NP_001354582.1:p.Gly528Arg
- NP_001354584.1:p.Gly598Arg
- NP_001354587.1:p.Gly290Arg
- NP_001354589.1:p.Gly467Arg
- NP_001354591.1:p.Gly477Arg
- NP_001354593.1:p.Gly565Arg
- NP_001354594.1:p.Gly527Arg
- NP_001354595.1:p.Gly609Arg
- NP_001354596.1:p.Gly515Arg
- NP_001354597.1:p.Gly542Arg
- NP_001354598.1:p.Gly537Arg
- NP_001354599.1:p.Gly478Arg
- NP_001354600.1:p.Gly477Arg
- NP_001354601.1:p.Gly517Arg
- NP_001354602.1:p.Gly572Arg
- NP_001354603.1:p.Gly594Arg
- NP_001354604.1:p.Gly578Arg
- NP_001354605.1:p.Gly589Arg
- NP_001354606.1:p.Gly630Arg
- NP_001354607.1:p.Gly658Arg
- NP_001354608.1:p.Gly514Arg
- NP_001354609.1:p.Gly506Arg
- NP_001354610.1:p.Gly544Arg
- NP_001354611.1:p.Gly622Arg
- NP_001354612.1:p.Gly556Arg
- NP_001354613.1:p.Gly581Arg
- NP_001354614.1:p.Gly565Arg
- NP_001354615.1:p.Gly472Arg
- NP_001354617.1:p.Gly555Arg
- NP_001354618.1:p.Gly515Arg
- NP_001354619.1:p.Gly625Arg
- NP_001354620.1:p.Gly608Arg
- NP_001354621.1:p.Gly631Arg
- NP_001354622.1:p.Gly593Arg
- NP_001354623.1:p.Gly527Arg
- NP_001354624.1:p.Gly502Arg
- NP_001354625.1:p.Gly554Arg
- NP_001354626.1:p.Gly593Arg
- NP_001354627.1:p.Gly621Arg
- NP_001354628.1:p.Gly658Arg
- NP_001354629.1:p.Gly598Arg
- NP_001354630.1:p.Gly495Arg
- NP_001354631.1:p.Gly532Arg
- NP_001354632.1:p.Gly659Arg
- NP_001354633.1:p.Gly532Arg
- NP_001354634.1:p.Gly659Arg
- NP_001354635.1:p.Gly572Arg
- NP_001354637.1:p.Gly339Arg
- NP_079430.3:p.Gly445Arg
- NC_000007.13:g.899822G>C
- NM_001130965.2:c.1582G>C
- NR_160281.1:n.1630G>C
- NR_160282.1:n.1993G>C
- NR_160283.1:n.1734G>C
This HGVS expression did not pass validation- Protein change:
- G290R
- Links:
- dbSNP: rs549897796
- NCBI 1000 Genomes Browser:
- rs549897796
- Molecular consequence:
- NM_001130965.3:c.1582G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001171944.2:c.1273G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367633.1:c.1582G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367634.1:c.1582G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367635.1:c.1231G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367636.1:c.1822G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367638.1:c.1690G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367639.1:c.1123G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367640.1:c.1762G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367641.1:c.1864G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367642.1:c.1567G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367643.1:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367644.1:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367645.1:c.1630G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367646.1:c.1711G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367647.1:c.1624G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367648.1:c.1444G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367649.1:c.1627G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367651.1:c.1996G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367653.1:c.1582G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367655.1:c.1792G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367658.1:c.868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367660.1:c.1399G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367662.1:c.1429G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367664.1:c.1693G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367665.1:c.1579G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367666.1:c.1825G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367667.1:c.1543G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367668.1:c.1624G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367669.1:c.1609G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367670.1:c.1432G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367671.1:c.1429G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367672.1:c.1549G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367673.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367674.1:c.1780G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367675.1:c.1732G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367676.1:c.1765G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367677.1:c.1888G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367678.1:c.1972G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367679.1:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367680.1:c.1516G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367681.1:c.1630G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367682.1:c.1864G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367683.1:c.1666G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367684.1:c.1741G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367685.1:c.1693G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367686.1:c.1414G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367688.1:c.1663G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367689.1:c.1543G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367690.1:c.1873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367691.1:c.1822G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367692.1:c.1891G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367693.1:c.1777G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367694.1:c.1579G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367695.1:c.1504G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367696.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367697.1:c.1777G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367698.1:c.1861G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367699.1:c.1972G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367700.1:c.1792G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367701.1:c.1483G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367702.1:c.1594G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367703.1:c.1975G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367704.1:c.1594G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367705.1:c.1975G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367706.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001367708.1:c.1015G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_025154.6:c.1333G>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_160281.1:n.1630G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_160282.1:n.1993G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_160283.1:n.1734G>C - 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 |
---|---|---|---|---|---|---|
SCV000960669 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Uncertain significance (Dec 22, 2018) | 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):240-242.
- PMID:
- 28492532
- PMCID:
- PMC5632818
Details of each submission
From Invitae, SCV000960669.4
# | 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: "Possibly Damaging"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SUN1-related conditions. This variant is present in population databases (rs549897796, ExAC 0.01%). This sequence change replaces glycine with arginine at codon 528 of the SUN1 protein (p.Gly528Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.
# | 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: Feb 28, 2024