NM_001372051.1(CASP8):c.339C>T (p.Ser113=) AND not provided
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 1, 2024
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- 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:
- RCV003326414.10
Allele description [Variation Report for NM_001372051.1(CASP8):c.339C>T (p.Ser113=)]
NM_001372051.1(CASP8):c.339C>T (p.Ser113=)
- Gene:
- CASP8:caspase 8 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 2q33.1
- Genomic location:
- Preferred name:
- NM_001372051.1(CASP8):c.339C>T (p.Ser113=)
- HGVS:
- NC_000002.12:g.201271549C>T
- NG_007497.1:g.43092C>T
- NM_001080124.2:c.339C>T
- NM_001080125.2:c.516C>T
- NM_001228.5:c.435C>T
- NM_001372051.1:c.339C>TMANE SELECT
- NM_001400642.1:c.516C>T
- NM_001400645.1:c.339C>T
- NM_001400648.1:c.339C>T
- NM_001400651.1:c.339C>T
- NM_001400653.1:c.339C>T
- NM_001400654.1:c.339C>T
- NM_001400655.1:c.339C>T
- NM_001400656.1:c.339C>T
- NM_001400657.1:c.339C>T
- NM_001400658.1:c.339C>T
- NM_001400659.1:c.339C>T
- NM_001400660.1:c.339C>T
- NM_001400661.1:c.339C>T
- NM_001400662.1:c.339C>T
- NM_001400663.1:c.339C>T
- NM_001400664.1:c.339C>T
- NM_001400665.1:c.516C>T
- NM_001400666.1:c.339C>T
- NM_001400667.1:c.339C>T
- NM_001400668.1:c.339C>T
- NM_001400669.1:c.30C>T
- NM_001400670.1:c.339C>T
- NM_001400671.1:c.-194C>T
- NM_001400672.1:c.-194C>T
- NM_001400673.1:c.-194C>T
- NM_001400674.1:c.-375C>T
- NM_001400675.1:c.-194C>T
- NM_001400676.1:c.-194C>T
- NM_001400677.1:c.-194C>T
- NM_001400678.1:c.-194C>T
- NM_001400679.1:c.339C>T
- NM_001400680.1:c.-273C>T
- NM_001400750.1:c.-194C>T
- NM_001400751.1:c.-194C>T
- NM_033355.4:c.339C>T
- NM_033356.4:c.339C>T
- NP_001073593.1:p.Ser113=
- NP_001073594.1:p.Ser172=
- NP_001219.2:p.Ser145=
- NP_001219.2:p.Ser145=
- NP_001358980.1:p.Ser113=
- NP_001387571.1:p.Ser172=
- NP_001387574.1:p.Ser113=
- NP_001387577.1:p.Ser113=
- NP_001387580.1:p.Ser113=
- NP_001387582.1:p.Ser113=
- NP_001387583.1:p.Ser113=
- NP_001387584.1:p.Ser113=
- NP_001387585.1:p.Ser113=
- NP_001387586.1:p.Ser113=
- NP_001387587.1:p.Ser113=
- NP_001387588.1:p.Ser113=
- NP_001387589.1:p.Ser113=
- NP_001387590.1:p.Ser113=
- NP_001387591.1:p.Ser113=
- NP_001387592.1:p.Ser113=
- NP_001387593.1:p.Ser113=
- NP_001387594.1:p.Ser172=
- NP_001387595.1:p.Ser113=
- NP_001387596.1:p.Ser113=
- NP_001387597.1:p.Ser113=
- NP_001387598.1:p.Ser10=
- NP_001387599.1:p.Ser113=
- NP_001387608.1:p.Ser113=
- NP_203519.1:p.Ser113=
- NP_203519.1:p.Ser113=
- NP_203520.1:p.Ser113=
- LRG_34t1:c.435C>T
- LRG_34t2:c.339C>T
- LRG_34t3:c.339C>T
- LRG_34:g.43092C>T
- LRG_34p1:p.Ser145=
- LRG_34p2:p.Ser113=
- LRG_34p3:p.Ser113=
- NC_000002.11:g.202136272C>T
- NM_001228.4:c.435C>T
- NM_033355.3:c.339C>T
- NR_111983.2:n.713C>T
- NR_174583.1:n.554C>T
- NR_174584.1:n.713C>T
- NR_174585.1:n.485C>T
- NR_174586.1:n.459C>T
- NR_174588.1:n.622C>T
- NR_174589.1:n.417C>T
- NR_174590.1:n.554C>T
- NR_174591.1:n.485C>T
- NR_174592.1:n.687C>T
- NR_174593.1:n.485C>T
- NR_174594.1:n.528C>T
- NR_174595.1:n.443C>T
- NR_174596.1:n.443C>T
- NR_174597.1:n.443C>T
- NR_174598.1:n.622C>T
- NR_174599.1:n.443C>T
- NR_174600.1:n.713C>T
- NR_174601.1:n.459C>T
- NR_174602.1:n.443C>T
This HGVS expression did not pass validation- Links:
- dbSNP: rs17860422
- NCBI 1000 Genomes Browser:
- rs17860422
- Molecular consequence:
- NM_001400671.1:c.-194C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001400672.1:c.-194C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001400673.1:c.-194C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001400674.1:c.-375C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001400675.1:c.-194C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001400676.1:c.-194C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001400677.1:c.-194C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001400678.1:c.-194C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001400680.1:c.-273C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001400750.1:c.-194C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NM_001400751.1:c.-194C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
- NR_111983.2:n.713C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174583.1:n.554C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174584.1:n.713C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174585.1:n.485C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174586.1:n.459C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174588.1:n.622C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174589.1:n.417C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174590.1:n.554C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174591.1:n.485C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174592.1:n.687C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174593.1:n.485C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174594.1:n.528C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174595.1:n.443C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174596.1:n.443C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174598.1:n.622C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174599.1:n.443C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174600.1:n.713C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174601.1:n.459C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_174602.1:n.443C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NM_001080124.2:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001080125.2:c.516C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001228.5:c.435C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001372051.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400642.1:c.516C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400645.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400648.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400651.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400653.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400654.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400655.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400656.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400657.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400658.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400659.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400660.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400661.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400662.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400663.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400664.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400665.1:c.516C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400666.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400667.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400668.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400669.1:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400670.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001400679.1:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_033355.4:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_033356.4:c.339C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- Observations:
- 5
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV004033850 | CeGaT Center for Human Genetics Tuebingen | criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) | Likely benign (Jan 1, 2024) | germline | clinical testing | |
SCV005255996 | Breakthrough Genomics, Breakthrough Genomics | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely benign | germline | not provided |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | 5 | not provided | not provided | not provided | not provided | clinical testing, not provided |
Citations
PubMed
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
PubMed [citation]
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From CeGaT Center for Human Genetics Tuebingen, SCV004033850.9
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 5 | not provided | not provided | clinical testing | not provided |
Description
CASP8: BP4, BP7, BS2
# | 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 | 5 | not provided | not provided | not provided |
From Breakthrough Genomics, Breakthrough Genomics, SCV005255996.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | not provided | PubMed (1) |
# | 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: Sep 29, 2024