NM_001382548.1(TCERG1):c.989A>C (p.Gln330Pro) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 26, 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:
- RCV004152695.1
Allele description [Variation Report for NM_001382548.1(TCERG1):c.989A>C (p.Gln330Pro)]
NM_001382548.1(TCERG1):c.989A>C (p.Gln330Pro)
- Gene:
- TCERG1:transcription elongation regulator 1 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 5q32
- Genomic location:
- Preferred name:
- NM_001382548.1(TCERG1):c.989A>C (p.Gln330Pro)
- HGVS:
- NC_000005.10:g.146463647A>C
- NM_001040006.2:c.989A>C
- NM_001382548.1:c.989A>CMANE SELECT
- NM_001400077.1:c.989A>C
- NM_001400082.1:c.932A>C
- NM_001400083.1:c.911A>C
- NM_001400084.1:c.905A>C
- NM_001400085.1:c.905A>C
- NM_001400092.1:c.929A>C
- NM_001400093.1:c.905A>C
- NM_001400094.1:c.989A>C
- NM_001400095.1:c.899A>C
- NM_001400096.1:c.815A>C
- NM_001400097.1:c.989A>C
- NM_001400098.1:c.785A>C
- NM_001400099.1:c.905A>C
- NM_006706.4:c.989A>C
- NP_001035095.1:p.Gln330Pro
- NP_001369477.1:p.Gln330Pro
- NP_001387006.1:p.Gln330Pro
- NP_001387011.1:p.Gln311Pro
- NP_001387012.1:p.Gln304Pro
- NP_001387013.1:p.Gln302Pro
- NP_001387014.1:p.Gln302Pro
- NP_001387021.1:p.Gln310Pro
- NP_001387022.1:p.Gln302Pro
- NP_001387023.1:p.Gln330Pro
- NP_001387024.1:p.Gln300Pro
- NP_001387025.1:p.Gln272Pro
- NP_001387026.1:p.Gln330Pro
- NP_001387027.1:p.Gln262Pro
- NP_001387028.1:p.Gln302Pro
- NP_006697.2:p.Gln330Pro
- NC_000005.9:g.145843210A>C
- NM_006706.3:c.989A>C
- NR_174389.1:n.1006A>C
- NR_174390.1:n.1006A>C
- NR_174391.1:n.1006A>C
- NR_174406.1:n.1009A>C
- NR_174407.1:n.1088A>C
- NR_174408.1:n.1006A>C
- NR_174409.1:n.1006A>C
- NR_174410.1:n.1006A>C
- NR_174411.1:n.1006A>C
- NR_174412.1:n.1006A>C
- NR_174413.1:n.1006A>C
- NR_174414.1:n.1096A>C
- NR_174415.1:n.1085A>C
- NR_174416.1:n.1006A>C
- NR_174417.1:n.1085A>C
- NR_174418.1:n.1006A>C
- NR_174419.1:n.1006A>C
- NR_174420.1:n.1006A>C
- NR_174421.1:n.1006A>C
- NR_174422.1:n.1006A>C
- NR_174423.1:n.1006A>C
- NR_174424.1:n.1006A>C
- NR_174425.1:n.1006A>C
- NR_174426.1:n.1006A>C
- NR_174427.1:n.1006A>C
- NR_174428.1:n.1006A>C
- NR_174429.1:n.1006A>C
- NR_174430.1:n.1006A>C
- NR_174431.1:n.1006A>C
- NR_174432.1:n.1006A>C
- NR_174433.1:n.1006A>C
- NR_174434.1:n.1006A>C
- NR_174435.1:n.1006A>C
- NR_174436.1:n.1006A>C
- NR_174437.1:n.1006A>C
- NR_174438.1:n.1006A>C
- NR_174439.1:n.922A>C
- NR_174440.1:n.1006A>C
- NR_174441.1:n.1006A>C
- NR_174442.1:n.1006A>C
- NR_174443.1:n.1006A>C
- NR_174444.1:n.1006A>C
- NR_174445.1:n.1006A>C
- NR_174446.1:n.1006A>C
- NR_174447.1:n.1006A>C
- NR_174448.1:n.1006A>C
- NR_174449.1:n.1006A>C
- NR_174450.1:n.1006A>C
- NR_174451.1:n.1085A>C
- NR_174452.1:n.1006A>C
- NR_174453.1:n.1006A>C
- NR_174454.1:n.1006A>C
This HGVS expression did not pass validation- Protein change:
- Q262P
- Molecular consequence:
- NM_001040006.2:c.989A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001382548.1:c.989A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400077.1:c.989A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400082.1:c.932A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400083.1:c.911A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400084.1:c.905A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400085.1:c.905A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400092.1:c.929A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400093.1:c.905A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400094.1:c.989A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400095.1:c.899A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400096.1:c.815A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400097.1:c.989A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400098.1:c.785A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001400099.1:c.905A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_006706.4:c.989A>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_174389.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174390.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174391.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174406.1:n.1009A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174407.1:n.1088A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174408.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174409.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174410.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174411.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174412.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174413.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174414.1:n.1096A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174415.1:n.1085A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174416.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174417.1:n.1085A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174418.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174419.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174420.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174421.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174422.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174423.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174424.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174425.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174426.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174427.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174428.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174429.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174430.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174431.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174432.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174433.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174434.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174435.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174436.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174437.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174438.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174439.1:n.922A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174440.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174441.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174442.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174443.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174444.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174445.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174446.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174447.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174448.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174449.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174450.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174451.1:n.1085A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174452.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174453.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174454.1:n.1006A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV003644644 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Oct 26, 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 |
Details of each submission
From Ambry Genetics, SCV003644644.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.989A>C (p.Q330P) alteration is located in exon 5 (coding exon 5) of the TCERG1 gene. This alteration results from a A to C substitution at nucleotide position 989, causing the glutamine (Q) at amino acid position 330 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
# | 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 16, 2024