NM_014989.7(RIMS1):c.4057A>G (p.Thr1353Ala) AND Cone-Rod Dystrophy, Dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- 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:
- RCV000360403.5
Allele description [Variation Report for NM_014989.7(RIMS1):c.4057A>G (p.Thr1353Ala)]
NM_014989.7(RIMS1):c.4057A>G (p.Thr1353Ala)
- Gene:
- RIMS1:regulating synaptic membrane exocytosis 1 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 6q13
- Genomic location:
- Preferred name:
- NM_014989.7(RIMS1):c.4057A>G (p.Thr1353Ala)
- HGVS:
- NC_000006.12:g.72313599A>G
- NG_016209.1:g.431653A>G
- NM_001168407.2:c.2017A>G
- NM_001168408.2:c.1741+21553A>G
- NM_001168409.2:c.1570+21553A>G
- NM_001168410.2:c.1768+21553A>G
- NM_001350414.2:c.1978A>G
- NM_001350415.2:c.2101A>G
- NM_001350416.2:c.2050A>G
- NM_001350417.2:c.1813+21553A>G
- NM_001350418.2:c.2023A>G
- NM_001350419.2:c.1585+21553A>G
- NM_001350420.2:c.2131A>G
- NM_001350421.2:c.1876A>G
- NM_001350422.2:c.1810+21553A>G
- NM_001350423.2:c.1792A>G
- NM_001350424.2:c.1672+21553A>G
- NM_001350425.2:c.1975A>G
- NM_001350426.2:c.1660+21553A>G
- NM_001350427.2:c.1738+21553A>G
- NM_001350428.2:c.1744+21553A>G
- NM_001350429.2:c.1795A>G
- NM_001350430.2:c.1741+21553A>G
- NM_001350431.2:c.2113A>G
- NM_001350432.2:c.1648+21553A>G
- NM_001350433.2:c.2104A>G
- NM_001350434.2:c.1888+21553A>G
- NM_001350435.2:c.1966A>G
- NM_001350436.2:c.2209A>G
- NM_001350437.2:c.1960A>G
- NM_001350438.2:c.1993+21553A>G
- NM_001350439.2:c.1948A>G
- NM_001350440.2:c.1657+21553A>G
- NM_001350441.2:c.1945A>G
- NM_001350442.2:c.1996+21553A>G
- NM_001350443.2:c.1945A>G
- NM_001350444.2:c.1792A>G
- NM_001350445.2:c.1894+21553A>G
- NM_001350446.2:c.2203A>G
- NM_001350447.2:c.1864A>G
- NM_001350448.2:c.2020A>G
- NM_001350449.2:c.1720+21553A>G
- NM_001350450.2:c.1669+21553A>G
- NM_001350454.2:c.1927A>G
- NM_001350455.2:c.1588+21553A>G
- NM_001350456.2:c.2200A>G
- NM_001350457.2:c.1957A>G
- NM_001350458.2:c.2026A>G
- NM_001350459.2:c.1879A>G
- NM_001350460.2:c.1897A>G
- NM_001350461.2:c.1774A>G
- NM_001350462.2:c.2062A>G
- NM_001350463.2:c.1702A>G
- NM_001350464.2:c.1705A>G
- NM_001350465.2:c.1498+21553A>G
- NM_001350466.2:c.1735A>G
- NM_001350467.2:c.1624A>G
- NM_001350468.2:c.1549A>G
- NM_001350469.2:c.1777A>G
- NM_001350470.2:c.1774+21553A>G
- NM_001350471.2:c.1858A>G
- NM_001350472.2:c.1693+21553A>G
- NM_001350473.2:c.1696+21553A>G
- NM_001350474.2:c.1750A>G
- NM_014989.7:c.4057A>GMANE SELECT
- NP_001161879.1:p.Thr673Ala
- NP_001337343.1:p.Thr660Ala
- NP_001337344.1:p.Thr701Ala
- NP_001337345.1:p.Thr684Ala
- NP_001337347.1:p.Thr675Ala
- NP_001337349.1:p.Thr711Ala
- NP_001337350.1:p.Thr626Ala
- NP_001337352.1:p.Thr598Ala
- NP_001337354.1:p.Thr659Ala
- NP_001337358.1:p.Thr599Ala
- NP_001337360.1:p.Thr705Ala
- NP_001337362.1:p.Thr702Ala
- NP_001337364.1:p.Thr656Ala
- NP_001337365.1:p.Thr737Ala
- NP_001337366.1:p.Thr654Ala
- NP_001337368.1:p.Thr650Ala
- NP_001337370.1:p.Thr649Ala
- NP_001337372.1:p.Thr649Ala
- NP_001337373.1:p.Thr598Ala
- NP_001337375.1:p.Thr735Ala
- NP_001337376.1:p.Thr622Ala
- NP_001337377.1:p.Thr674Ala
- NP_001337383.1:p.Thr643Ala
- NP_001337385.1:p.Thr734Ala
- NP_001337386.1:p.Thr653Ala
- NP_001337387.1:p.Thr676Ala
- NP_001337388.1:p.Thr627Ala
- NP_001337389.1:p.Thr633Ala
- NP_001337390.1:p.Thr592Ala
- NP_001337391.1:p.Thr688Ala
- NP_001337392.1:p.Thr568Ala
- NP_001337393.1:p.Thr569Ala
- NP_001337395.1:p.Thr579Ala
- NP_001337396.1:p.Thr542Ala
- NP_001337397.1:p.Thr517Ala
- NP_001337398.1:p.Thr593Ala
- NP_001337400.1:p.Thr620Ala
- NP_001337403.1:p.Thr584Ala
- NP_055804.2:p.Thr1353Ala
- NP_055804.2:p.Thr1353Ala
- NC_000006.11:g.73023302A>G
- NM_014989.5:c.4057A>G
This HGVS expression did not pass validation- Protein change:
- T1353A
- Links:
- dbSNP: rs886061709
- NCBI 1000 Genomes Browser:
- rs886061709
- Molecular consequence:
- NM_001168408.2:c.1741+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001168409.2:c.1570+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001168410.2:c.1768+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350417.2:c.1813+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350419.2:c.1585+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350422.2:c.1810+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350424.2:c.1672+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350426.2:c.1660+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350427.2:c.1738+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350428.2:c.1744+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350430.2:c.1741+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350432.2:c.1648+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350434.2:c.1888+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350438.2:c.1993+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350440.2:c.1657+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350442.2:c.1996+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350445.2:c.1894+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350449.2:c.1720+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350450.2:c.1669+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350455.2:c.1588+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350465.2:c.1498+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350470.2:c.1774+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350472.2:c.1693+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001350473.2:c.1696+21553A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001168407.2:c.2017A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350414.2:c.1978A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350415.2:c.2101A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350416.2:c.2050A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350418.2:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350420.2:c.2131A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350421.2:c.1876A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350423.2:c.1792A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350425.2:c.1975A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350429.2:c.1795A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350431.2:c.2113A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350433.2:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350435.2:c.1966A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350436.2:c.2209A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350437.2:c.1960A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350439.2:c.1948A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350441.2:c.1945A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350443.2:c.1945A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350444.2:c.1792A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350446.2:c.2203A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350447.2:c.1864A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350448.2:c.2020A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350454.2:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350456.2:c.2200A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350457.2:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350458.2:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350459.2:c.1879A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350460.2:c.1897A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350461.2:c.1774A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350462.2:c.2062A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350463.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350464.2:c.1705A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350466.2:c.1735A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350467.2:c.1624A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350468.2:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350469.2:c.1777A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350471.2:c.1858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350474.2:c.1750A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_014989.7:c.4057A>G - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
- Name:
- Cone-Rod Dystrophy, Dominant
- Identifiers:
- MedGen: CN239348
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000464679 | Illumina Laboratory Services, Illumina | criteria provided, single submitter (ICSL Variant Classification 20161018) | Uncertain significance (Jun 14, 2016) | germline | clinical testing | ICSL_Variant_Classification_20161018.pdf |
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 |
Details of each submission
From Illumina Laboratory Services, Illumina, SCV000464679.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | 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: Apr 9, 2023