NM_001242792.2(SNAP91):c.1843T>C (p.Ser615Pro) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 10, 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:
- RCV004189773.1
Allele description [Variation Report for NM_001242792.2(SNAP91):c.1843T>C (p.Ser615Pro)]
NM_001242792.2(SNAP91):c.1843T>C (p.Ser615Pro)
- Gene:
- SNAP91:synaptosome associated protein 91 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 6q14.2
- Genomic location:
- Preferred name:
- NM_001242792.2(SNAP91):c.1843T>C (p.Ser615Pro)
- HGVS:
- NC_000006.12:g.83592949A>G
- NM_001242792.2:c.1843T>CMANE SELECT
- NM_001242793.2:c.1837T>C
- NM_001242794.2:c.1094-10593T>C
- NM_001256717.2:c.1654T>C
- NM_001256718.2:c.1486T>C
- NM_001363677.2:c.1843T>C
- NM_001376675.1:c.1837T>C
- NM_001376676.1:c.1837T>C
- NM_001376677.1:c.1837T>C
- NM_001376678.1:c.1837T>C
- NM_001376679.1:c.1837T>C
- NM_001376680.1:c.1837T>C
- NM_001376681.1:c.1837T>C
- NM_001376682.1:c.1837T>C
- NM_001376683.1:c.1834T>C
- NM_001376684.1:c.1834T>C
- NM_001376685.1:c.1837T>C
- NM_001376686.1:c.1837T>C
- NM_001376687.1:c.1822T>C
- NM_001376688.1:c.1837T>C
- NM_001376689.1:c.1837T>C
- NM_001376690.1:c.1837T>C
- NM_001376691.1:c.1837T>C
- NM_001376692.1:c.1837T>C
- NM_001376693.1:c.1816T>C
- NM_001376694.1:c.1813T>C
- NM_001376695.1:c.1795T>C
- NM_001376696.1:c.1795T>C
- NM_001376697.1:c.1795T>C
- NM_001376698.1:c.1795T>C
- NM_001376699.1:c.1837T>C
- NM_001376700.1:c.1837T>C
- NM_001376701.1:c.1795T>C
- NM_001376702.1:c.1759T>C
- NM_001376703.1:c.1759T>C
- NM_001376704.1:c.1759T>C
- NM_001376705.1:c.1759T>C
- NM_001376706.1:c.1759T>C
- NM_001376707.1:c.1759T>C
- NM_001376708.1:c.1837T>C
- NM_001376709.1:c.1837T>C
- NM_001376710.1:c.1837T>C
- NM_001376711.1:c.1837T>C
- NM_001376712.1:c.1822T>C
- NM_001376713.1:c.1759T>C
- NM_001376714.1:c.1759T>C
- NM_001376715.1:c.1744T>C
- NM_001376716.1:c.1717T>C
- NM_001376717.1:c.1717T>C
- NM_001376718.1:c.1691-411T>C
- NM_001376719.1:c.1759T>C
- NM_001376720.1:c.1663T>C
- NM_001376721.1:c.1663T>C
- NM_001376723.1:c.1663T>C
- NM_001376726.1:c.1663T>C
- NM_001376728.1:c.1663T>C
- NM_001376731.1:c.1759T>C
- NM_001376733.1:c.1822T>C
- NM_001376734.1:c.1822T>C
- NM_001376735.1:c.1663T>C
- NM_001376736.1:c.1717T>C
- NM_001376737.1:c.1822T>C
- NM_001376738.1:c.1303+8322T>C
- NM_001376739.1:c.1261+8322T>C
- NM_001376740.1:c.1303+8322T>C
- NM_014841.3:c.1843T>C
- NP_001229721.1:p.Ser615Pro
- NP_001229722.1:p.Ser613Pro
- NP_001243646.1:p.Ser552Pro
- NP_001243647.1:p.Ser496Pro
- NP_001350606.1:p.Ser615Pro
- NP_001363604.1:p.Ser613Pro
- NP_001363605.1:p.Ser613Pro
- NP_001363606.1:p.Ser613Pro
- NP_001363607.1:p.Ser613Pro
- NP_001363608.1:p.Ser613Pro
- NP_001363609.1:p.Ser613Pro
- NP_001363610.1:p.Ser613Pro
- NP_001363611.1:p.Ser613Pro
- NP_001363612.1:p.Ser612Pro
- NP_001363613.1:p.Ser612Pro
- NP_001363614.1:p.Ser613Pro
- NP_001363615.1:p.Ser613Pro
- NP_001363616.1:p.Ser608Pro
- NP_001363617.1:p.Ser613Pro
- NP_001363618.1:p.Ser613Pro
- NP_001363619.1:p.Ser613Pro
- NP_001363620.1:p.Ser613Pro
- NP_001363621.1:p.Ser613Pro
- NP_001363622.1:p.Ser606Pro
- NP_001363623.1:p.Ser605Pro
- NP_001363624.1:p.Ser599Pro
- NP_001363625.1:p.Ser599Pro
- NP_001363626.1:p.Ser599Pro
- NP_001363627.1:p.Ser599Pro
- NP_001363628.1:p.Ser613Pro
- NP_001363629.1:p.Ser613Pro
- NP_001363630.1:p.Ser599Pro
- NP_001363631.1:p.Ser587Pro
- NP_001363632.1:p.Ser587Pro
- NP_001363633.1:p.Ser587Pro
- NP_001363634.1:p.Ser587Pro
- NP_001363635.1:p.Ser587Pro
- NP_001363636.1:p.Ser587Pro
- NP_001363637.1:p.Ser613Pro
- NP_001363638.1:p.Ser613Pro
- NP_001363639.1:p.Ser613Pro
- NP_001363640.1:p.Ser613Pro
- NP_001363641.1:p.Ser608Pro
- NP_001363642.1:p.Ser587Pro
- NP_001363643.1:p.Ser587Pro
- NP_001363644.1:p.Ser582Pro
- NP_001363645.1:p.Ser573Pro
- NP_001363646.1:p.Ser573Pro
- NP_001363648.1:p.Ser587Pro
- NP_001363649.1:p.Ser555Pro
- NP_001363650.1:p.Ser555Pro
- NP_001363652.1:p.Ser555Pro
- NP_001363655.1:p.Ser555Pro
- NP_001363657.1:p.Ser555Pro
- NP_001363660.1:p.Ser587Pro
- NP_001363662.1:p.Ser608Pro
- NP_001363663.1:p.Ser608Pro
- NP_001363664.1:p.Ser555Pro
- NP_001363665.1:p.Ser573Pro
- NP_001363666.1:p.Ser608Pro
- NP_055656.1:p.Ser615Pro
- NC_000006.11:g.84302668A>G
- NM_014841.2:c.1843T>C
- NR_164843.1:n.1975T>C
- NR_164844.1:n.1860T>C
- NR_164845.1:n.2124T>C
- NR_164846.1:n.2025T>C
This HGVS expression did not pass validation- Protein change:
- S496P
- Molecular consequence:
- NM_001242794.2:c.1094-10593T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001376718.1:c.1691-411T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001376738.1:c.1303+8322T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001376739.1:c.1261+8322T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001376740.1:c.1303+8322T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001242792.2:c.1843T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001242793.2:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001256717.2:c.1654T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001256718.2:c.1486T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001363677.2:c.1843T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376675.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376676.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376677.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376678.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376679.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376680.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376681.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376682.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376683.1:c.1834T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376684.1:c.1834T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376685.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376686.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376687.1:c.1822T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376688.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376689.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376690.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376691.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376692.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376693.1:c.1816T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376694.1:c.1813T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376695.1:c.1795T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376696.1:c.1795T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376697.1:c.1795T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376698.1:c.1795T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376699.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376700.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376701.1:c.1795T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376702.1:c.1759T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376703.1:c.1759T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376704.1:c.1759T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376705.1:c.1759T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376706.1:c.1759T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376707.1:c.1759T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376708.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376709.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376710.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376711.1:c.1837T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376712.1:c.1822T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376713.1:c.1759T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376714.1:c.1759T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376715.1:c.1744T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376716.1:c.1717T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376717.1:c.1717T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376719.1:c.1759T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376720.1:c.1663T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376721.1:c.1663T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376723.1:c.1663T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376726.1:c.1663T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376728.1:c.1663T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376731.1:c.1759T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376733.1:c.1822T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376734.1:c.1822T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376735.1:c.1663T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376736.1:c.1717T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001376737.1:c.1822T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_014841.3:c.1843T>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_164843.1:n.1975T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164844.1:n.1860T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164845.1:n.2124T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164846.1:n.2025T>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 |
---|---|---|---|---|---|---|
SCV003693920 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Jun 10, 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, SCV003693920.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.1843T>C (p.S615P) alteration is located in exon 20 (coding exon 19) of the SNAP91 gene. This alteration results from a T to C substitution at nucleotide position 1843, causing the serine (S) at amino acid position 615 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: May 19, 2024