NM_001385503.1(CAPRIN2):c.2267T>C (p.Leu756Pro) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 6, 2021
- 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:
- RCV004133098.1
Allele description [Variation Report for NM_001385503.1(CAPRIN2):c.2267T>C (p.Leu756Pro)]
NM_001385503.1(CAPRIN2):c.2267T>C (p.Leu756Pro)
- Gene:
- CAPRIN2:caprin family member 2 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 12p11.21
- Genomic location:
- Preferred name:
- NM_001385503.1(CAPRIN2):c.2267T>C (p.Leu756Pro)
- HGVS:
- NC_000012.12:g.30715096A>G
- NG_029557.2:g.44419T>C
- NM_001002259.3:c.2513T>C
- NM_001206856.3:c.2360-15T>C
- NM_001319842.2:c.1511T>C
- NM_001319843.2:c.2510T>C
- NM_001319844.2:c.2165T>C
- NM_001319845.2:c.2270T>C
- NM_001319846.2:c.2270T>C
- NM_001385498.1:c.2465-15T>C
- NM_001385499.1:c.2408T>C
- NM_001385500.1:c.2405T>C
- NM_001385501.1:c.2270T>C
- NM_001385502.1:c.2267T>C
- NM_001385503.1:c.2267T>CMANE SELECT
- NM_001385504.1:c.2222-15T>C
- NM_001385505.1:c.2222-15T>C
- NM_001385506.1:c.2222-15T>C
- NM_001385507.1:c.2165T>C
- NM_001385508.1:c.2162T>C
- NM_001385509.1:c.2162T>C
- NM_001385510.1:c.2117-15T>C
- NM_001385511.1:c.2018T>C
- NM_001385512.1:c.2018T>C
- NM_001385513.1:c.2018T>C
- NM_001385514.1:c.2015T>C
- NM_001385515.1:c.2015T>C
- NM_001385516.1:c.2513T>C
- NM_001385518.1:c.2513T>C
- NM_001385519.1:c.2270T>C
- NM_001385520.1:c.2270T>C
- NM_001385521.1:c.2267T>C
- NM_001385522.1:c.2267T>C
- NM_001385523.1:c.2222-15T>C
- NM_001385524.1:c.2222-15T>C
- NM_001385525.1:c.2222-15T>C
- NM_001385526.1:c.2117-15T>C
- NM_001385527.1:c.2018T>C
- NM_001385528.1:c.1514T>C
- NM_001385529.1:c.1514T>C
- NM_001385531.1:c.1511T>C
- NM_001385532.1:c.1511T>C
- NM_001385533.1:c.1511T>C
- NM_001385534.1:c.1511T>C
- NM_001385535.1:c.1970-15T>C
- NM_001385537.1:c.1466-15T>C
- NM_001385538.1:c.1442T>C
- NM_001385539.1:c.1409T>C
- NM_001385540.1:c.1406T>C
- NM_001385541.1:c.1406T>C
- NM_001385542.1:c.1361-15T>C
- NM_001385543.1:c.1340T>C
- NM_001385544.1:c.1337T>C
- NM_001385545.1:c.1259T>C
- NM_001385546.1:c.1193T>C
- NM_001385547.1:c.1514T>C
- NM_001385548.1:c.1514T>C
- NM_001385549.1:c.1514T>C
- NM_001385550.1:c.1511T>C
- NM_001385551.1:c.1511T>C
- NM_001385552.1:c.1511T>C
- NM_001385553.1:c.1466-15T>C
- NM_001385554.1:c.1511T>C
- NM_001385557.1:c.1406T>C
- NM_001385559.1:c.1466-15T>C
- NM_023925.5:c.2363T>C
- NM_032156.5:c.2510T>C
- NP_001002259.1:p.Leu838Pro
- NP_001306771.1:p.Leu504Pro
- NP_001306772.1:p.Leu837Pro
- NP_001306773.1:p.Leu722Pro
- NP_001306774.1:p.Leu757Pro
- NP_001306775.1:p.Leu757Pro
- NP_001372428.1:p.Leu803Pro
- NP_001372429.1:p.Leu802Pro
- NP_001372430.1:p.Leu757Pro
- NP_001372431.1:p.Leu756Pro
- NP_001372432.1:p.Leu756Pro
- NP_001372436.1:p.Leu722Pro
- NP_001372437.1:p.Leu721Pro
- NP_001372438.1:p.Leu721Pro
- NP_001372440.1:p.Leu673Pro
- NP_001372441.1:p.Leu673Pro
- NP_001372442.1:p.Leu673Pro
- NP_001372443.1:p.Leu672Pro
- NP_001372444.1:p.Leu672Pro
- NP_001372445.1:p.Leu838Pro
- NP_001372447.1:p.Leu838Pro
- NP_001372448.1:p.Leu757Pro
- NP_001372449.1:p.Leu757Pro
- NP_001372450.1:p.Leu756Pro
- NP_001372451.1:p.Leu756Pro
- NP_001372456.1:p.Leu673Pro
- NP_001372457.1:p.Leu505Pro
- NP_001372458.1:p.Leu505Pro
- NP_001372460.1:p.Leu504Pro
- NP_001372461.1:p.Leu504Pro
- NP_001372462.1:p.Leu504Pro
- NP_001372463.1:p.Leu504Pro
- NP_001372467.1:p.Leu481Pro
- NP_001372468.1:p.Leu470Pro
- NP_001372469.1:p.Leu469Pro
- NP_001372470.1:p.Leu469Pro
- NP_001372472.1:p.Leu447Pro
- NP_001372473.1:p.Leu446Pro
- NP_001372474.1:p.Leu420Pro
- NP_001372475.1:p.Leu398Pro
- NP_001372476.1:p.Leu505Pro
- NP_001372477.1:p.Leu505Pro
- NP_001372478.1:p.Leu505Pro
- NP_001372479.1:p.Leu504Pro
- NP_001372480.1:p.Leu504Pro
- NP_001372481.1:p.Leu504Pro
- NP_001372483.1:p.Leu504Pro
- NP_001372486.1:p.Leu469Pro
- NP_076414.2:p.Leu788Pro
- NP_115532.3:p.Leu837Pro
- NC_000012.11:g.30868030A>G
- NM_001002259.1:c.2513T>C
- NR_038177.2:n.3178T>C
- NR_169636.1:n.1956T>C
- NR_169637.1:n.1956T>C
- NR_169640.1:n.2544T>C
- NR_169641.1:n.2544T>C
This HGVS expression did not pass validation- Protein change:
- L398P
- Molecular consequence:
- NM_001206856.3:c.2360-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385498.1:c.2465-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385504.1:c.2222-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385505.1:c.2222-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385506.1:c.2222-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385510.1:c.2117-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385523.1:c.2222-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385524.1:c.2222-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385525.1:c.2222-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385526.1:c.2117-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385535.1:c.1970-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385537.1:c.1466-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385542.1:c.1361-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385553.1:c.1466-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385559.1:c.1466-15T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001002259.3:c.2513T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001319842.2:c.1511T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001319843.2:c.2510T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001319844.2:c.2165T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001319845.2:c.2270T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001319846.2:c.2270T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385499.1:c.2408T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385500.1:c.2405T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385501.1:c.2270T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385502.1:c.2267T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385503.1:c.2267T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385507.1:c.2165T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385508.1:c.2162T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385509.1:c.2162T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385511.1:c.2018T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385512.1:c.2018T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385513.1:c.2018T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385514.1:c.2015T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385515.1:c.2015T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385516.1:c.2513T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385518.1:c.2513T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385519.1:c.2270T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385520.1:c.2270T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385521.1:c.2267T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385522.1:c.2267T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385527.1:c.2018T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385528.1:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385529.1:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385531.1:c.1511T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385532.1:c.1511T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385533.1:c.1511T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385534.1:c.1511T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385538.1:c.1442T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385539.1:c.1409T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385540.1:c.1406T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385541.1:c.1406T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385543.1:c.1340T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385544.1:c.1337T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385545.1:c.1259T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385546.1:c.1193T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385547.1:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385548.1:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385549.1:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385550.1:c.1511T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385551.1:c.1511T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385552.1:c.1511T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385554.1:c.1511T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385557.1:c.1406T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_023925.5:c.2363T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_032156.5:c.2510T>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_169636.1:n.1956T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169637.1:n.1956T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169640.1:n.2544T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169641.1:n.2544T>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 |
---|---|---|---|---|---|---|
SCV003622313 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Oct 6, 2021) | 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, SCV003622313.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.2513T>C (p.L838P) alteration is located in exon 15 (coding exon 15) of the CAPRIN2 gene. This alteration results from a T to C substitution at nucleotide position 2513, causing the leucine (L) at amino acid position 838 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: Jun 2, 2024