NM_015122.3(FCHO1):c.2036G>C (p.Arg679Pro) AND Severe congenital neutropenia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2019
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- 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:
- RCV001194468.1
Allele description [Variation Report for NM_015122.3(FCHO1):c.2036G>C (p.Arg679Pro)]
NM_015122.3(FCHO1):c.2036G>C (p.Arg679Pro)
- Gene:
- FCHO1:FCH and mu domain containing endocytic adaptor 1 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 19p13.11
- Genomic location:
- Preferred name:
- NM_015122.3(FCHO1):c.2036G>C (p.Arg679Pro)
- HGVS:
- NC_000019.10:g.17783115G>C
- NM_001161357.2:c.2036G>C
- NM_001161358.2:c.2036G>C
- NM_001161359.2:c.1886G>C
- NM_001384370.1:c.2036G>C
- NM_001384371.1:c.2036G>C
- NM_001384372.1:c.2036G>C
- NM_001384373.1:c.2036G>C
- NM_001384374.1:c.2036G>C
- NM_001384375.1:c.2036G>C
- NM_001384376.1:c.2036G>C
- NM_001384377.1:c.2036G>C
- NM_001384378.1:c.2036G>C
- NM_001384379.1:c.2036G>C
- NM_001384380.1:c.2036G>C
- NM_001384381.1:c.2036G>C
- NM_001384384.1:c.1886G>C
- NM_001384385.1:c.1886G>C
- NM_001384386.1:c.1886G>C
- NM_001384387.1:c.2036G>C
- NM_001384388.1:c.1997G>C
- NM_001384389.1:c.1997G>C
- NM_001384390.1:c.1961G>C
- NM_001384391.1:c.2036G>C
- NM_001384392.1:c.1919G>C
- NM_001384393.1:c.1919G>C
- NM_001384394.1:c.1919G>C
- NM_001384395.1:c.1919G>C
- NM_001384396.1:c.1760G>C
- NM_001384397.1:c.1760G>C
- NM_001384398.1:c.1760G>C
- NM_001384399.1:c.1760G>C
- NM_001384400.1:c.1760G>C
- NM_001384401.1:c.1760G>C
- NM_001384402.1:c.1760G>C
- NM_001384403.1:c.1715G>C
- NM_001384404.1:c.1760G>C
- NM_001384405.1:c.1997G>C
- NM_001384406.1:c.1610G>C
- NM_001384407.1:c.1466G>C
- NM_015122.3:c.2036G>CMANE SELECT
- NP_001154829.1:p.Arg679Pro
- NP_001154830.1:p.Arg679Pro
- NP_001154831.1:p.Arg629Pro
- NP_001371299.1:p.Arg679Pro
- NP_001371300.1:p.Arg679Pro
- NP_001371301.1:p.Arg679Pro
- NP_001371302.1:p.Arg679Pro
- NP_001371303.1:p.Arg679Pro
- NP_001371304.1:p.Arg679Pro
- NP_001371305.1:p.Arg679Pro
- NP_001371306.1:p.Arg679Pro
- NP_001371307.1:p.Arg679Pro
- NP_001371308.1:p.Arg679Pro
- NP_001371309.1:p.Arg679Pro
- NP_001371310.1:p.Arg679Pro
- NP_001371313.1:p.Arg629Pro
- NP_001371314.1:p.Arg629Pro
- NP_001371315.1:p.Arg629Pro
- NP_001371316.1:p.Arg679Pro
- NP_001371317.1:p.Arg666Pro
- NP_001371318.1:p.Arg666Pro
- NP_001371319.1:p.Arg654Pro
- NP_001371320.1:p.Arg679Pro
- NP_001371321.1:p.Arg640Pro
- NP_001371322.1:p.Arg640Pro
- NP_001371323.1:p.Arg640Pro
- NP_001371324.1:p.Arg640Pro
- NP_001371325.1:p.Arg587Pro
- NP_001371326.1:p.Arg587Pro
- NP_001371327.1:p.Arg587Pro
- NP_001371328.1:p.Arg587Pro
- NP_001371329.1:p.Arg587Pro
- NP_001371330.1:p.Arg587Pro
- NP_001371331.1:p.Arg587Pro
- NP_001371332.1:p.Arg572Pro
- NP_001371333.1:p.Arg587Pro
- NP_001371334.1:p.Arg666Pro
- NP_001371335.1:p.Arg537Pro
- NP_001371336.1:p.Arg489Pro
- NP_055937.1:p.Arg679Pro
- NC_000019.9:g.17893924G>C
- NR_169219.1:n.2293G>C
- NR_169220.1:n.2107G>C
- NR_169221.1:n.2048G>C
- NR_169222.1:n.2216G>C
- NR_169223.1:n.2019G>C
- NR_169224.1:n.1929G>C
- NR_169225.1:n.2496G>C
- NR_169226.1:n.2199G>C
- NR_169227.1:n.2290G>C
- NR_169228.1:n.2128G>C
- NR_169229.1:n.2489G>C
- NR_169230.1:n.2026G>C
- NR_169231.1:n.2175G>C
- NR_169232.1:n.2566G>C
- NR_169233.1:n.2103G>C
- NR_169234.1:n.2569G>C
- NR_169235.1:n.1916G>C
- NR_169236.1:n.2492G>C
- NR_169238.1:n.2202G>C
- NR_169239.1:n.2475G>C
- NR_169240.1:n.2122G>C
- NR_169246.1:n.2017G>C
- NR_169247.1:n.2198G>C
- NR_169248.1:n.2289G>C
- NR_169249.1:n.1976G>C
- NR_169250.1:n.1917G>C
- NR_169251.1:n.2398G>C
- NR_169252.1:n.2252G>C
- NR_169253.1:n.1947G>C
- NR_169254.1:n.2427G>C
- NR_169255.1:n.1951G>C
- NR_169256.1:n.2323G>C
- NR_169257.1:n.2222G>C
- NR_169258.1:n.2067G>C
- NR_169259.1:n.2249G>C
- NR_169260.1:n.2522G>C
This HGVS expression did not pass validation- Protein change:
- R489P; ARG679PRO
- Links:
- OMIM: 613437.0004; dbSNP: rs530286781
- NCBI 1000 Genomes Browser:
- rs530286781
- Molecular consequence:
- NM_001161357.2:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001161358.2:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001161359.2:c.1886G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384370.1:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384371.1:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384372.1:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384373.1:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384374.1:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384375.1:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384376.1:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384377.1:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384378.1:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384379.1:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384380.1:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384381.1:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384384.1:c.1886G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384385.1:c.1886G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384386.1:c.1886G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384387.1:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384388.1:c.1997G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384389.1:c.1997G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384390.1:c.1961G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384391.1:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384392.1:c.1919G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384393.1:c.1919G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384394.1:c.1919G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384395.1:c.1919G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384396.1:c.1760G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384397.1:c.1760G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384398.1:c.1760G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384399.1:c.1760G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384400.1:c.1760G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384401.1:c.1760G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384402.1:c.1760G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384403.1:c.1715G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384404.1:c.1760G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384405.1:c.1997G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384406.1:c.1610G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384407.1:c.1466G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_015122.3:c.2036G>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_169219.1:n.2293G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169220.1:n.2107G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169221.1:n.2048G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169222.1:n.2216G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169223.1:n.2019G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169224.1:n.1929G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169225.1:n.2496G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169226.1:n.2199G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169227.1:n.2290G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169228.1:n.2128G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169229.1:n.2489G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169230.1:n.2026G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169231.1:n.2175G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169232.1:n.2566G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169233.1:n.2103G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169234.1:n.2569G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169235.1:n.1916G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169236.1:n.2492G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169238.1:n.2202G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169239.1:n.2475G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169240.1:n.2122G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169246.1:n.2017G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169247.1:n.2198G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169248.1:n.2289G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169249.1:n.1976G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169250.1:n.1917G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169251.1:n.2398G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169252.1:n.2252G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169253.1:n.1947G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169254.1:n.2427G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169255.1:n.1951G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169256.1:n.2323G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169257.1:n.2222G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169258.1:n.2067G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169259.1:n.2249G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169260.1:n.2522G>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 |
---|---|---|---|---|---|---|
SCV001146883 | Genomics Facility, Ludwig-Maximilians-Universität München | no assertion criteria provided | Pathogenic (Dec 1, 2019) | germline | research |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | research |
Details of each submission
From Genomics Facility, Ludwig-Maximilians-Universität München, SCV001146883.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | research | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Apr 23, 2022