This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ClinVar Genomic variation as it relates to human health
NM_001385682.1(MAP4):c.1280C>A (p.Ser427Tyr)
Germline
Classification
Help
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.
(1)
Help
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.
Benign
1
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_001385682.1(MAP4):c.1280C>A (p.Ser427Tyr)
Variation ID: 3059551 Accession: VCV003059551.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p21.31 3: 47916547 (GRCh38) [ NCBI UCSC ] 3: 47958037 (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 Mar 17, 2024 Oct 8, 2024 Oct 25, 2019 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001385682.1:c.1280C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001372611.1:p.Ser427Tyr missense NM_001134364.2:c.1280C>A NP_001127836.1:p.Ser427Tyr missense NM_001384675.1:c.1157C>A NP_001371604.1:p.Ser386Tyr missense NM_001384676.1:c.1280C>A NP_001371605.1:p.Ser427Tyr missense NM_001384677.1:c.1280C>A NP_001371606.1:p.Ser427Tyr missense NM_001384678.1:c.1316C>A NP_001371607.1:p.Ser439Tyr missense NM_001384679.1:c.1280C>A NP_001371608.1:p.Ser427Tyr missense NM_001384680.1:c.974C>A NP_001371609.1:p.Ser325Tyr missense NM_001384681.1:c.1157C>A NP_001371610.1:p.Ser386Tyr missense NM_001384707.1:c.1157C>A NP_001371636.1:p.Ser386Tyr missense NM_001384729.1:c.1280C>A NP_001371658.1:p.Ser427Tyr missense NM_001384730.1:c.1211C>A NP_001371659.1:p.Ser404Tyr missense NM_001384731.1:c.1331C>A NP_001371660.1:p.Ser444Tyr missense NM_001384733.1:c.1280C>A NP_001371662.1:p.Ser427Tyr missense NM_001384734.1:c.1280C>A NP_001371663.1:p.Ser427Tyr missense NM_001384735.1:c.1280C>A NP_001371664.1:p.Ser427Tyr missense NM_001384736.1:c.1331C>A NP_001371665.1:p.Ser444Tyr missense NM_001384737.1:c.1280C>A NP_001371666.1:p.Ser427Tyr missense NM_001384738.1:c.1316C>A NP_001371667.1:p.Ser439Tyr missense NM_001384744.1:c.1208C>A NP_001371673.1:p.Ser403Tyr missense NM_001384745.1:c.1316C>A NP_001371674.1:p.Ser439Tyr missense NM_001384746.1:c.1088C>A NP_001371675.1:p.Ser363Tyr missense NM_001384748.1:c.1316C>A NP_001371677.1:p.Ser439Tyr missense NM_001384751.1:c.1280C>A NP_001371680.1:p.Ser427Tyr missense NM_001384752.1:c.1280C>A NP_001371681.1:p.Ser427Tyr missense NM_001384753.1:c.1088C>A NP_001371682.1:p.Ser363Tyr missense NM_001384754.1:c.1280C>A NP_001371683.1:p.Ser427Tyr missense NM_001384755.1:c.1157C>A NP_001371684.1:p.Ser386Tyr missense NM_001384756.1:c.1280C>A NP_001371685.1:p.Ser427Tyr missense NM_001384757.1:c.1088C>A NP_001371686.1:p.Ser363Tyr missense NM_001384758.1:c.1166C>A NP_001371687.1:p.Ser389Tyr missense NM_001384759.1:c.1157C>A NP_001371688.1:p.Ser386Tyr missense NM_001384760.1:c.1157C>A NP_001371689.1:p.Ser386Tyr missense NM_001384761.1:c.1280C>A NP_001371690.1:p.Ser427Tyr missense NM_001384762.1:c.653-1608C>A intron variant NM_001384774.1:c.1280C>A NP_001371703.1:p.Ser427Tyr missense NM_001384776.1:c.1166C>A NP_001371705.1:p.Ser389Tyr missense NM_001384777.1:c.1211C>A NP_001371706.1:p.Ser404Tyr missense NM_001384778.1:c.653-6C>A intron variant NM_001384779.1:c.1280C>A NP_001371708.1:p.Ser427Tyr missense NM_001384780.1:c.1211C>A NP_001371709.1:p.Ser404Tyr missense NM_001384781.1:c.1280C>A NP_001371710.1:p.Ser427Tyr missense NM_001384782.1:c.1211C>A NP_001371711.1:p.Ser404Tyr missense NM_001384783.1:c.1211C>A NP_001371712.1:p.Ser404Tyr missense NM_001384784.1:c.653-1608C>A intron variant NM_001384785.1:c.1280C>A NP_001371714.1:p.Ser427Tyr missense NM_001384786.1:c.1211C>A NP_001371715.1:p.Ser404Tyr missense NM_001384787.1:c.1211C>A NP_001371716.1:p.Ser404Tyr missense NM_001384788.1:c.1331C>A NP_001371717.1:p.Ser444Tyr missense NM_001384789.1:c.1208C>A NP_001371718.1:p.Ser403Tyr missense NM_001384790.1:c.1331C>A NP_001371719.1:p.Ser444Tyr missense NM_001384791.1:c.1208C>A NP_001371720.1:p.Ser403Tyr missense NM_001384792.1:c.1331C>A NP_001371721.1:p.Ser444Tyr missense NM_001384793.1:c.1208C>A NP_001371722.1:p.Ser403Tyr missense NM_001384794.1:c.1331C>A NP_001371723.1:p.Ser444Tyr missense NM_001384795.1:c.1367C>A NP_001371724.1:p.Ser456Tyr missense NM_001384796.1:c.1331C>A NP_001371725.1:p.Ser444Tyr missense NM_001384797.1:c.1208C>A NP_001371726.1:p.Ser403Tyr missense NM_001384798.1:c.1280C>A NP_001371727.1:p.Ser427Tyr missense NM_001384800.1:c.1280C>A NP_001371729.1:p.Ser427Tyr missense NM_001384802.1:c.529+5218C>A intron variant NM_001384803.1:c.1043C>A NP_001371732.1:p.Ser348Tyr missense NM_001384804.1:c.1157C>A NP_001371733.1:p.Ser386Tyr missense NM_001384805.1:c.1157C>A NP_001371734.1:p.Ser386Tyr missense NM_001384806.1:c.1157C>A NP_001371735.1:p.Ser386Tyr missense NM_001384807.1:c.1043C>A NP_001371736.1:p.Ser348Tyr missense NM_001384808.1:c.529+5218C>A intron variant NM_001384809.1:c.1280C>A NP_001371738.1:p.Ser427Tyr missense NM_001384810.1:c.1280C>A NP_001371739.1:p.Ser427Tyr missense NM_001384811.1:c.1211C>A NP_001371740.1:p.Ser404Tyr missense NM_001384812.1:c.529+5218C>A intron variant NM_001384813.1:c.622-1655C>A intron variant NM_001384814.1:c.1280C>A NP_001371743.1:p.Ser427Tyr missense NM_001384815.1:c.529+5218C>A intron variant NM_001384816.1:c.1211C>A NP_001371745.1:p.Ser404Tyr missense NM_001384817.1:c.460+5218C>A intron variant NM_001384819.1:c.1280C>A NP_001371748.1:p.Ser427Tyr missense NM_001384820.1:c.1280C>A NP_001371749.1:p.Ser427Tyr missense NM_001384824.1:c.1280C>A NP_001371753.1:p.Ser427Tyr missense NM_001384825.1:c.1166C>A NP_001371754.1:p.Ser389Tyr missense NM_001384826.1:c.1157C>A NP_001371755.1:p.Ser386Tyr missense NM_001384827.1:c.1280C>A NP_001371756.1:p.Ser427Tyr missense NM_001384828.1:c.1211C>A NP_001371757.1:p.Ser404Tyr missense NM_001384831.1:c.1280C>A NP_001371760.1:p.Ser427Tyr missense NM_001384832.1:c.1166C>A NP_001371761.1:p.Ser389Tyr missense NM_001384834.1:c.1190C>A NP_001371763.1:p.Ser397Tyr missense NM_001384835.1:c.529+5218C>A intron variant NM_001384836.1:c.1157C>A NP_001371765.1:p.Ser386Tyr missense NM_001384837.1:c.1157C>A NP_001371766.1:p.Ser386Tyr missense NM_001384838.1:c.1280C>A NP_001371767.1:p.Ser427Tyr missense NM_001384839.1:c.959C>A NP_001371768.1:p.Ser320Tyr missense NM_001384840.1:c.1280C>A NP_001371769.1:p.Ser427Tyr missense NM_001384841.1:c.1166C>A NP_001371770.1:p.Ser389Tyr missense NM_001384842.1:c.1043C>A NP_001371771.1:p.Ser348Tyr missense NM_001384843.1:c.1043C>A NP_001371772.1:p.Ser348Tyr missense NM_001384844.1:c.1280C>A NP_001371773.1:p.Ser427Tyr missense NM_001384845.1:c.959C>A NP_001371774.1:p.Ser320Tyr missense NM_001384846.1:c.1280C>A NP_001371775.1:p.Ser427Tyr missense NM_001384847.1:c.1280C>A NP_001371776.1:p.Ser427Tyr missense NM_001384848.1:c.1280C>A NP_001371777.1:p.Ser427Tyr missense NM_001384849.1:c.1241C>A NP_001371778.1:p.Ser414Tyr missense NM_001384850.1:c.1157C>A NP_001371779.1:p.Ser386Tyr missense NM_001384851.1:c.1166C>A NP_001371780.1:p.Ser389Tyr missense NM_001384853.1:c.1157C>A NP_001371782.1:p.Ser386Tyr missense NM_001384856.1:c.653-6C>A intron variant NM_001384857.1:c.1211C>A NP_001371786.1:p.Ser404Tyr missense NM_001384859.1:c.1202C>A NP_001371788.1:p.Ser401Tyr missense NM_001384861.1:c.1280C>A NP_001371790.1:p.Ser427Tyr missense NM_001384862.1:c.836C>A NP_001371791.1:p.Ser279Tyr missense NM_001384863.1:c.1364C>A NP_001371792.1:p.Ser455Tyr missense NM_001384864.1:c.1088C>A NP_001371793.1:p.Ser363Tyr missense NM_001384866.1:c.1157C>A NP_001371795.1:p.Ser386Tyr missense NM_001384867.1:c.959C>A NP_001371796.1:p.Ser320Tyr missense NM_001384868.1:c.1157C>A NP_001371797.1:p.Ser386Tyr missense NM_001384869.1:c.1211C>A NP_001371798.1:p.Ser404Tyr missense NM_001384870.1:c.1280C>A NP_001371799.1:p.Ser427Tyr missense NM_001384871.1:c.1280C>A NP_001371800.1:p.Ser427Tyr missense NM_001384872.1:c.1316C>A NP_001371801.1:p.Ser439Tyr missense NM_001384873.1:c.1202C>A NP_001371802.1:p.Ser401Tyr missense NM_001384874.1:c.1190C>A NP_001371803.1:p.Ser397Tyr missense NM_001384875.1:c.1316C>A NP_001371804.1:p.Ser439Tyr missense NM_001384876.1:c.1166C>A NP_001371805.1:p.Ser389Tyr missense NM_001384877.1:c.530-1608C>A intron variant NM_001384878.1:c.1280C>A NP_001371807.1:p.Ser427Tyr missense NM_001384879.1:c.1280C>A NP_001371808.1:p.Ser427Tyr missense NM_001384892.1:c.1190C>A NP_001371821.1:p.Ser397Tyr missense NM_001384893.1:c.1157C>A NP_001371822.1:p.Ser386Tyr missense NM_001385664.1:c.1211C>A NP_001372593.1:p.Ser404Tyr missense NM_001385665.1:c.1280C>A NP_001372594.1:p.Ser427Tyr missense NM_001385675.1:c.1316C>A NP_001372604.1:p.Ser439Tyr missense NM_001385676.1:c.1088C>A NP_001372605.1:p.Ser363Tyr missense NM_001385677.1:c.1280C>A NP_001372606.1:p.Ser427Tyr missense NM_001385681.1:c.1331C>A NP_001372610.1:p.Ser444Tyr missense NM_001385684.1:c.1280C>A NP_001372613.1:p.Ser427Tyr missense NM_001385685.1:c.1280C>A NP_001372614.1:p.Ser427Tyr missense NM_001385686.1:c.1331C>A NP_001372615.1:p.Ser444Tyr missense NM_001385687.1:c.1331C>A NP_001372616.1:p.Ser444Tyr missense NM_001385688.1:c.1331C>A NP_001372617.1:p.Ser444Tyr missense NM_001385689.1:c.1331C>A NP_001372618.1:p.Ser444Tyr missense NM_002375.5:c.1280C>A NP_002366.2:p.Ser427Tyr missense NM_030885.1:c.1280C>A NP_112147.1:p.Ser427Tyr missense NC_000003.12:g.47916547G>T NC_000003.11:g.47958037G>T NG_052840.1:g.177733C>A - Protein change
- S279Y, S320Y, S325Y, S348Y, S363Y, S386Y, S389Y, S397Y, S401Y, S403Y, S404Y, S414Y, S427Y, S439Y, S444Y, S455Y, S456Y
- Other names
- -
- Canonical SPDI
- NC_000003.12:47916546: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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
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. |
|||
| MAP4 | - | - |
GRCh38 GRCh37 |
109 | 125 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
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
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
|
MAP4-related disorder
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Benign (1) |
no assertion criteria provided
|
Oct 25, 2019 | RCV003974522.2 |
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
Help
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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|---|---|---|---|---|---|
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Benign
(Oct 25, 2019)
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no assertion criteria provided
Method: clinical testing
|
MAP4-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004800622.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
|
Comment:
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. |
Comment:
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Citations for germline classification of this variant
Help| There 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 this variant ...
HelpRecord last updated Nov 30, 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.