ClinVar Genomic variation as it relates to human health
NM_001375505.1(MAP2):c.2254G>T (p.Ala752Ser)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001375505.1(MAP2):c.2254G>T (p.Ala752Ser)
Variation ID: 252604 Accession: VCV000252604.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2q34 2: 209694424 (GRCh38) [ NCBI UCSC ] 2: 210559148 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Aug 1, 2016 May 1, 2024 Nov 13, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001375505.1:c.2254G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001362434.1:p.Ala752Ser missense NM_001039538.2:c.455-5853G>T intron variant NM_001363910.2:c.2242G>T NP_001350839.1:p.Ala748Ser missense NM_001363911.2:c.2242G>T NP_001350840.1:p.Ala748Ser missense NM_001363913.2:c.455-5853G>T intron variant NM_001375474.1:c.455-5853G>T intron variant NM_001375493.1:c.455-5853G>T intron variant NM_001375494.1:c.455-5853G>T intron variant NM_001375495.1:c.455-2118G>T intron variant NM_001375496.1:c.455-5856G>T intron variant NM_001375497.1:c.452-5853G>T intron variant NM_001375498.1:c.452-2118G>T intron variant NM_001375499.1:c.455-5853G>T intron variant NM_001375500.1:c.2242G>T NP_001362429.1:p.Ala748Ser missense NM_001375501.1:c.2500G>T NP_001362430.1:p.Ala834Ser missense NM_001375502.1:c.2251G>T NP_001362431.1:p.Ala751Ser missense NM_001375503.1:c.2485G>T NP_001362432.1:p.Ala829Ser missense NM_001375504.1:c.2254G>T NP_001362433.1:p.Ala752Ser missense NM_001375506.1:c.2254G>T NP_001362435.1:p.Ala752Ser missense NM_001375507.1:c.2242G>T NP_001362436.1:p.Ala748Ser missense NM_001375508.1:c.455-5853G>T intron variant NM_001375509.1:c.544+1698G>T intron variant NM_001375510.1:c.455-2118G>T intron variant NM_001375526.1:c.2254G>T NP_001362455.1:p.Ala752Ser missense NM_001375527.1:c.2254G>T NP_001362456.1:p.Ala752Ser missense NM_001375528.1:c.2242G>T NP_001362457.1:p.Ala748Ser missense NM_001375529.1:c.452-5853G>T intron variant NM_001375530.1:c.455-5856G>T intron variant NM_001375531.1:c.2500G>T NP_001362460.1:p.Ala834Ser missense NM_001375532.1:c.455-5856G>T intron variant NM_001375533.1:c.452-5853G>T intron variant NM_001375534.1:c.2254G>T NP_001362463.1:p.Ala752Ser missense NM_001375535.1:c.697+3576G>T intron variant NM_001375536.1:c.455-2118G>T intron variant NM_001375537.1:c.2500G>T NP_001362466.1:p.Ala834Ser missense NM_001375538.1:c.455-2118G>T intron variant NM_001375539.1:c.2488G>T NP_001362468.1:p.Ala830Ser missense NM_001375540.1:c.452-2118G>T intron variant NM_001375541.1:c.455-2493G>T intron variant NM_001375542.1:c.452-5856G>T intron variant NM_001375543.1:c.2254G>T NP_001362472.1:p.Ala752Ser missense NM_001375544.1:c.2251G>T NP_001362473.1:p.Ala751Ser missense NM_001375545.1:c.2242G>T NP_001362474.1:p.Ala748Ser missense NM_001375546.1:c.2242G>T NP_001362475.1:p.Ala748Ser missense NM_001375548.1:c.2239G>T NP_001362477.1:p.Ala747Ser missense NM_001375551.1:c.1780G>T NP_001362480.1:p.Ala594Ser missense NM_001375552.1:c.1780G>T NP_001362481.1:p.Ala594Ser missense NM_001375553.1:c.-17-2118G>T intron variant NM_001375554.1:c.-17-2118G>T intron variant NM_001375555.1:c.1780G>T NP_001362484.1:p.Ala594Ser missense NM_001375556.1:c.1780G>T NP_001362485.1:p.Ala594Ser missense NM_001375557.1:c.1780G>T NP_001362486.1:p.Ala594Ser missense NM_001375558.1:c.1780G>T NP_001362487.1:p.Ala594Ser missense NM_001375559.1:c.1780G>T NP_001362488.1:p.Ala594Ser missense NM_001375583.1:c.455-5853G>T intron variant NM_002374.4:c.2254G>T NP_002365.3:p.Ala752Ser missense NM_031845.3:c.455-5853G>T intron variant NM_031847.3:c.455-5853G>T intron variant NC_000002.12:g.209694424G>T NC_000002.11:g.210559148G>T NG_052836.1:g.275378G>T - Protein change
- A752S, A748S, A594S, A747S, A751S, A829S, A830S, A834S
- Other names
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- Canonical SPDI
- NC_000002.12:209694423:G:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00020 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00012
The Genome Aggregation Database (gnomAD), exomes 0.00013
Exome Aggregation Consortium (ExAC) 0.00014
1000 Genomes Project 0.00020
1000 Genomes Project 30x 0.00031
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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MAP2 | - | - |
GRCh38 GRCh37 |
84 | 110 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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Nov 13, 2023 | RCV000239245.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Sep 30, 2015)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
unknown
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Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
Accession: SCV000297120.3
First in ClinVar: Aug 01, 2016 Last updated: Dec 24, 2022 |
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Uncertain significance
(Nov 13, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004900329.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.2254G>T (p.A752S) alteration is located in exon 7 (coding exon 4) of the MAP2 gene. This alteration results from a G to T substitution … (more)
The c.2254G>T (p.A752S) alteration is located in exon 7 (coding exon 4) of the MAP2 gene. This alteration results from a G to T substitution at nucleotide position 2254, causing the alanine (A) at amino acid position 752 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs142338628 ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.