NM_001375505.1(MAP2):c.4856C>T (p.Thr1619Ile) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 29, 2024
- 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:
- RCV004636469.1
Allele description [Variation Report for NM_001375505.1(MAP2):c.4856C>T (p.Thr1619Ile)]
NM_001375505.1(MAP2):c.4856C>T (p.Thr1619Ile)
- Gene:
- MAP2:microtubule associated protein 2 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 2q34
- Genomic location:
- Preferred name:
- NM_001375505.1(MAP2):c.4856C>T (p.Thr1619Ile)
- HGVS:
- NC_000002.12:g.209710037C>T
- NG_052836.1:g.290991C>T
- NM_001039538.2:c.959C>T
- NM_001363910.2:c.4844C>T
- NM_001363911.2:c.4844C>T
- NM_001363913.2:c.788C>T
- NM_001375474.1:c.959C>T
- NM_001375493.1:c.788C>T
- NM_001375494.1:c.788C>T
- NM_001375495.1:c.1130C>T
- NM_001375496.1:c.956C>T
- NM_001375497.1:c.785C>T
- NM_001375498.1:c.1124C>T
- NM_001375499.1:c.788C>T
- NM_001375500.1:c.4844C>T
- NM_001375501.1:c.5102C>T
- NM_001375502.1:c.4853C>T
- NM_001375503.1:c.5084C>T
- NM_001375504.1:c.5027C>T
- NM_001375505.1:c.4856C>TMANE SELECT
- NM_001375506.1:c.4853C>T
- NM_001375507.1:c.4841C>T
- NM_001375508.1:c.788C>T
- NM_001375509.1:c.1013C>T
- NM_001375510.1:c.1130C>T
- NM_001375526.1:c.4856C>T
- NM_001375527.1:c.4853C>T
- NM_001375528.1:c.4844C>T
- NM_001375529.1:c.785C>T
- NM_001375530.1:c.785C>T
- NM_001375531.1:c.5099C>T
- NM_001375532.1:c.785C>T
- NM_001375533.1:c.785C>T
- NM_001375534.1:c.4856C>T
- NM_001375535.1:c.1031C>T
- NM_001375536.1:c.1130C>T
- NM_001375537.1:c.5102C>T
- NM_001375538.1:c.1127C>T
- NM_001375539.1:c.5090C>T
- NM_001375540.1:c.1124C>T
- NM_001375541.1:c.923C>T
- NM_001375542.1:c.782C>T
- NM_001375543.1:c.4853C>T
- NM_001375544.1:c.4853C>T
- NM_001375545.1:c.4841C>T
- NM_001375546.1:c.4841C>T
- NM_001375548.1:c.4841C>T
- NM_001375551.1:c.4382C>T
- NM_001375552.1:c.4382C>T
- NM_001375553.1:c.659C>T
- NM_001375554.1:c.659C>T
- NM_001375555.1:c.4382C>T
- NM_001375556.1:c.4382C>T
- NM_001375557.1:c.4382C>T
- NM_001375558.1:c.4379C>T
- NM_001375559.1:c.4379C>T
- NM_001375583.1:c.788C>T
- NM_002374.4:c.4856C>T
- NM_031845.3:c.788C>T
- NM_031847.3:c.788C>T
- NP_001034627.1:p.Thr320Ile
- NP_001350839.1:p.Thr1615Ile
- NP_001350840.1:p.Thr1615Ile
- NP_001350842.1:p.Thr263Ile
- NP_001362403.1:p.Thr320Ile
- NP_001362422.1:p.Thr263Ile
- NP_001362423.1:p.Thr263Ile
- NP_001362424.1:p.Thr377Ile
- NP_001362425.1:p.Thr319Ile
- NP_001362426.1:p.Thr262Ile
- NP_001362427.1:p.Thr375Ile
- NP_001362428.1:p.Thr263Ile
- NP_001362429.1:p.Thr1615Ile
- NP_001362430.1:p.Thr1701Ile
- NP_001362431.1:p.Thr1618Ile
- NP_001362432.1:p.Thr1695Ile
- NP_001362433.1:p.Thr1676Ile
- NP_001362434.1:p.Thr1619Ile
- NP_001362435.1:p.Thr1618Ile
- NP_001362436.1:p.Thr1614Ile
- NP_001362437.1:p.Thr263Ile
- NP_001362438.1:p.Thr338Ile
- NP_001362439.1:p.Thr377Ile
- NP_001362455.1:p.Thr1619Ile
- NP_001362456.1:p.Thr1618Ile
- NP_001362457.1:p.Thr1615Ile
- NP_001362458.1:p.Thr262Ile
- NP_001362459.1:p.Thr262Ile
- NP_001362460.1:p.Thr1700Ile
- NP_001362461.1:p.Thr262Ile
- NP_001362462.1:p.Thr262Ile
- NP_001362463.1:p.Thr1619Ile
- NP_001362464.1:p.Thr344Ile
- NP_001362465.1:p.Thr377Ile
- NP_001362466.1:p.Thr1701Ile
- NP_001362467.1:p.Thr376Ile
- NP_001362468.1:p.Thr1697Ile
- NP_001362469.1:p.Thr375Ile
- NP_001362470.1:p.Thr308Ile
- NP_001362471.1:p.Thr261Ile
- NP_001362472.1:p.Thr1618Ile
- NP_001362473.1:p.Thr1618Ile
- NP_001362474.1:p.Thr1614Ile
- NP_001362475.1:p.Thr1614Ile
- NP_001362477.1:p.Thr1614Ile
- NP_001362480.1:p.Thr1461Ile
- NP_001362481.1:p.Thr1461Ile
- NP_001362482.1:p.Thr220Ile
- NP_001362483.1:p.Thr220Ile
- NP_001362484.1:p.Thr1461Ile
- NP_001362485.1:p.Thr1461Ile
- NP_001362486.1:p.Thr1461Ile
- NP_001362487.1:p.Thr1460Ile
- NP_001362488.1:p.Thr1460Ile
- NP_001362512.1:p.Thr263Ile
- NP_002365.3:p.Thr1619Ile
- NP_114033.2:p.Thr263Ile
- NP_114035.2:p.Thr263Ile
- NC_000002.11:g.210574761C>T
- NM_002374.3:c.4856C>T
- NR_164694.1:n.691C>T
- NR_164695.1:n.709C>T
- NR_164696.1:n.706C>T
- NR_164697.1:n.709C>T
- NR_164698.1:n.880C>T
- NR_164699.1:n.647C>T
This HGVS expression did not pass validation- Protein change:
- T1460I
- Molecular consequence:
- NM_001039538.2:c.959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001363910.2:c.4844C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001363911.2:c.4844C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001363913.2:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375474.1:c.959C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375493.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375494.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375495.1:c.1130C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375496.1:c.956C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375497.1:c.785C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375498.1:c.1124C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375499.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375500.1:c.4844C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375501.1:c.5102C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375502.1:c.4853C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375503.1:c.5084C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375504.1:c.5027C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375505.1:c.4856C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375506.1:c.4853C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375507.1:c.4841C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375508.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375509.1:c.1013C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375510.1:c.1130C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375526.1:c.4856C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375527.1:c.4853C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375528.1:c.4844C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375529.1:c.785C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375530.1:c.785C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375531.1:c.5099C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375532.1:c.785C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375533.1:c.785C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375534.1:c.4856C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375535.1:c.1031C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375536.1:c.1130C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375537.1:c.5102C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375538.1:c.1127C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375539.1:c.5090C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375540.1:c.1124C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375541.1:c.923C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375542.1:c.782C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375543.1:c.4853C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375544.1:c.4853C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375545.1:c.4841C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375546.1:c.4841C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375548.1:c.4841C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375551.1:c.4382C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375552.1:c.4382C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375553.1:c.659C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375554.1:c.659C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375555.1:c.4382C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375556.1:c.4382C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375557.1:c.4382C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375558.1:c.4379C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375559.1:c.4379C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001375583.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_002374.4:c.4856C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_031845.3:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_031847.3:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
- NR_164694.1:n.691C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164695.1:n.709C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164696.1:n.706C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164697.1:n.709C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164698.1:n.880C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_164699.1:n.647C>T - 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 |
|---|---|---|---|---|---|---|
| SCV005137726 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (May 29, 2024) | 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, SCV005137726.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.4856C>T (p.T1619I) alteration is located in exon 12 (coding exon 9) of the MAP2 gene. This alteration results from a C to T substitution at nucleotide position 4856, causing the threonine (T) at amino acid position 1619 to be replaced by an isoleucine (I). 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: Aug 11, 2024