The c.931G>A (p.E311K) alteration is located in exon 7 (coding exon 6) of the MAP4 gene. This alteration results from a G to A substitution at nucleotide position 931, causing the glutamic acid (E) at amino acid position 311 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001385682.1(MAP4):c.931G>A (p.Glu311Lys)
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)
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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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001385682.1(MAP4):c.931G>A (p.Glu311Lys)
Variation ID: 2254825 Accession: VCV002254825.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p21.31 3: 47916896 (GRCh38) [ NCBI UCSC ] 3: 47958386 (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 Feb 8, 2023 May 1, 2024 Oct 12, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001385682.1:c.931G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001372611.1:p.Glu311Lys missense NM_001134364.2:c.931G>A NP_001127836.1:p.Glu311Lys missense NM_001384675.1:c.808G>A NP_001371604.1:p.Glu270Lys missense NM_001384676.1:c.931G>A NP_001371605.1:p.Glu311Lys missense NM_001384677.1:c.931G>A NP_001371606.1:p.Glu311Lys missense NM_001384678.1:c.967G>A NP_001371607.1:p.Glu323Lys missense NM_001384679.1:c.931G>A NP_001371608.1:p.Glu311Lys missense NM_001384680.1:c.625G>A NP_001371609.1:p.Glu209Lys missense NM_001384681.1:c.808G>A NP_001371610.1:p.Glu270Lys missense NM_001384707.1:c.808G>A NP_001371636.1:p.Glu270Lys missense NM_001384729.1:c.931G>A NP_001371658.1:p.Glu311Lys missense NM_001384730.1:c.862G>A NP_001371659.1:p.Glu288Lys missense NM_001384731.1:c.982G>A NP_001371660.1:p.Glu328Lys missense NM_001384733.1:c.931G>A NP_001371662.1:p.Glu311Lys missense NM_001384734.1:c.931G>A NP_001371663.1:p.Glu311Lys missense NM_001384735.1:c.931G>A NP_001371664.1:p.Glu311Lys missense NM_001384736.1:c.982G>A NP_001371665.1:p.Glu328Lys missense NM_001384737.1:c.931G>A NP_001371666.1:p.Glu311Lys missense NM_001384738.1:c.967G>A NP_001371667.1:p.Glu323Lys missense NM_001384744.1:c.859G>A NP_001371673.1:p.Glu287Lys missense NM_001384745.1:c.967G>A NP_001371674.1:p.Glu323Lys missense NM_001384746.1:c.739G>A NP_001371675.1:p.Glu247Lys missense NM_001384748.1:c.967G>A NP_001371677.1:p.Glu323Lys missense NM_001384751.1:c.931G>A NP_001371680.1:p.Glu311Lys missense NM_001384752.1:c.931G>A NP_001371681.1:p.Glu311Lys missense NM_001384753.1:c.739G>A NP_001371682.1:p.Glu247Lys missense NM_001384754.1:c.931G>A NP_001371683.1:p.Glu311Lys missense NM_001384755.1:c.808G>A NP_001371684.1:p.Glu270Lys missense NM_001384756.1:c.931G>A NP_001371685.1:p.Glu311Lys missense NM_001384757.1:c.739G>A NP_001371686.1:p.Glu247Lys missense NM_001384758.1:c.817G>A NP_001371687.1:p.Glu273Lys missense NM_001384759.1:c.808G>A NP_001371688.1:p.Glu270Lys missense NM_001384760.1:c.808G>A NP_001371689.1:p.Glu270Lys missense NM_001384761.1:c.931G>A NP_001371690.1:p.Glu311Lys missense NM_001384762.1:c.652+1823G>A intron variant NM_001384774.1:c.931G>A NP_001371703.1:p.Glu311Lys missense NM_001384776.1:c.817G>A NP_001371705.1:p.Glu273Lys missense NM_001384777.1:c.862G>A NP_001371706.1:p.Glu288Lys missense NM_001384778.1:c.653-355G>A intron variant NM_001384779.1:c.931G>A NP_001371708.1:p.Glu311Lys missense NM_001384780.1:c.862G>A NP_001371709.1:p.Glu288Lys missense NM_001384781.1:c.931G>A NP_001371710.1:p.Glu311Lys missense NM_001384782.1:c.862G>A NP_001371711.1:p.Glu288Lys missense NM_001384783.1:c.862G>A NP_001371712.1:p.Glu288Lys missense NM_001384784.1:c.652+1823G>A intron variant NM_001384785.1:c.931G>A NP_001371714.1:p.Glu311Lys missense NM_001384786.1:c.862G>A NP_001371715.1:p.Glu288Lys missense NM_001384787.1:c.862G>A NP_001371716.1:p.Glu288Lys missense NM_001384788.1:c.982G>A NP_001371717.1:p.Glu328Lys missense NM_001384789.1:c.859G>A NP_001371718.1:p.Glu287Lys missense NM_001384790.1:c.982G>A NP_001371719.1:p.Glu328Lys missense NM_001384791.1:c.859G>A NP_001371720.1:p.Glu287Lys missense NM_001384792.1:c.982G>A NP_001371721.1:p.Glu328Lys missense NM_001384793.1:c.859G>A NP_001371722.1:p.Glu287Lys missense NM_001384794.1:c.982G>A NP_001371723.1:p.Glu328Lys missense NM_001384795.1:c.1018G>A NP_001371724.1:p.Glu340Lys missense NM_001384796.1:c.982G>A NP_001371725.1:p.Glu328Lys missense NM_001384797.1:c.859G>A NP_001371726.1:p.Glu287Lys missense NM_001384798.1:c.931G>A NP_001371727.1:p.Glu311Lys missense NM_001384800.1:c.931G>A NP_001371729.1:p.Glu311Lys missense NM_001384802.1:c.529+4869G>A intron variant NM_001384803.1:c.694G>A NP_001371732.1:p.Glu232Lys missense NM_001384804.1:c.808G>A NP_001371733.1:p.Glu270Lys missense NM_001384805.1:c.808G>A NP_001371734.1:p.Glu270Lys missense NM_001384806.1:c.808G>A NP_001371735.1:p.Glu270Lys missense NM_001384807.1:c.694G>A NP_001371736.1:p.Glu232Lys missense NM_001384808.1:c.529+4869G>A intron variant NM_001384809.1:c.931G>A NP_001371738.1:p.Glu311Lys missense NM_001384810.1:c.931G>A NP_001371739.1:p.Glu311Lys missense NM_001384811.1:c.862G>A NP_001371740.1:p.Glu288Lys missense NM_001384812.1:c.529+4869G>A intron variant NM_001384813.1:c.621+1854G>A intron variant NM_001384814.1:c.931G>A NP_001371743.1:p.Glu311Lys missense NM_001384815.1:c.529+4869G>A intron variant NM_001384816.1:c.862G>A NP_001371745.1:p.Glu288Lys missense NM_001384817.1:c.460+4869G>A intron variant NM_001384819.1:c.931G>A NP_001371748.1:p.Glu311Lys missense NM_001384820.1:c.931G>A NP_001371749.1:p.Glu311Lys missense NM_001384824.1:c.931G>A NP_001371753.1:p.Glu311Lys missense NM_001384825.1:c.817G>A NP_001371754.1:p.Glu273Lys missense NM_001384826.1:c.808G>A NP_001371755.1:p.Glu270Lys missense NM_001384827.1:c.931G>A NP_001371756.1:p.Glu311Lys missense NM_001384828.1:c.862G>A NP_001371757.1:p.Glu288Lys missense NM_001384831.1:c.931G>A NP_001371760.1:p.Glu311Lys missense NM_001384832.1:c.817G>A NP_001371761.1:p.Glu273Lys missense NM_001384834.1:c.841G>A NP_001371763.1:p.Glu281Lys missense NM_001384835.1:c.529+4869G>A intron variant NM_001384836.1:c.808G>A NP_001371765.1:p.Glu270Lys missense NM_001384837.1:c.808G>A NP_001371766.1:p.Glu270Lys missense NM_001384838.1:c.931G>A NP_001371767.1:p.Glu311Lys missense NM_001384839.1:c.610G>A NP_001371768.1:p.Glu204Lys missense NM_001384840.1:c.931G>A NP_001371769.1:p.Glu311Lys missense NM_001384841.1:c.817G>A NP_001371770.1:p.Glu273Lys missense NM_001384842.1:c.694G>A NP_001371771.1:p.Glu232Lys missense NM_001384843.1:c.694G>A NP_001371772.1:p.Glu232Lys missense NM_001384844.1:c.931G>A NP_001371773.1:p.Glu311Lys missense NM_001384845.1:c.610G>A NP_001371774.1:p.Glu204Lys missense NM_001384846.1:c.931G>A NP_001371775.1:p.Glu311Lys missense NM_001384847.1:c.931G>A NP_001371776.1:p.Glu311Lys missense NM_001384848.1:c.931G>A NP_001371777.1:p.Glu311Lys missense NM_001384849.1:c.892G>A NP_001371778.1:p.Glu298Lys missense NM_001384850.1:c.808G>A NP_001371779.1:p.Glu270Lys missense NM_001384851.1:c.817G>A NP_001371780.1:p.Glu273Lys missense NM_001384853.1:c.808G>A NP_001371782.1:p.Glu270Lys missense NM_001384856.1:c.653-355G>A intron variant NM_001384857.1:c.862G>A NP_001371786.1:p.Glu288Lys missense NM_001384859.1:c.853G>A NP_001371788.1:p.Glu285Lys missense NM_001384861.1:c.931G>A NP_001371790.1:p.Glu311Lys missense NM_001384862.1:c.487G>A NP_001371791.1:p.Glu163Lys missense NM_001384863.1:c.1015G>A NP_001371792.1:p.Glu339Lys missense NM_001384864.1:c.739G>A NP_001371793.1:p.Glu247Lys missense NM_001384866.1:c.808G>A NP_001371795.1:p.Glu270Lys missense NM_001384867.1:c.610G>A NP_001371796.1:p.Glu204Lys missense NM_001384868.1:c.808G>A NP_001371797.1:p.Glu270Lys missense NM_001384869.1:c.862G>A NP_001371798.1:p.Glu288Lys missense NM_001384870.1:c.931G>A NP_001371799.1:p.Glu311Lys missense NM_001384871.1:c.931G>A NP_001371800.1:p.Glu311Lys missense NM_001384872.1:c.967G>A NP_001371801.1:p.Glu323Lys missense NM_001384873.1:c.853G>A NP_001371802.1:p.Glu285Lys missense NM_001384874.1:c.841G>A NP_001371803.1:p.Glu281Lys missense NM_001384875.1:c.967G>A NP_001371804.1:p.Glu323Lys missense NM_001384876.1:c.817G>A NP_001371805.1:p.Glu273Lys missense NM_001384877.1:c.530-1957G>A intron variant NM_001384878.1:c.931G>A NP_001371807.1:p.Glu311Lys missense NM_001384879.1:c.931G>A NP_001371808.1:p.Glu311Lys missense NM_001384892.1:c.841G>A NP_001371821.1:p.Glu281Lys missense NM_001384893.1:c.808G>A NP_001371822.1:p.Glu270Lys missense NM_001385664.1:c.862G>A NP_001372593.1:p.Glu288Lys missense NM_001385665.1:c.931G>A NP_001372594.1:p.Glu311Lys missense NM_001385675.1:c.967G>A NP_001372604.1:p.Glu323Lys missense NM_001385676.1:c.739G>A NP_001372605.1:p.Glu247Lys missense NM_001385677.1:c.931G>A NP_001372606.1:p.Glu311Lys missense NM_001385681.1:c.982G>A NP_001372610.1:p.Glu328Lys missense NM_001385684.1:c.931G>A NP_001372613.1:p.Glu311Lys missense NM_001385685.1:c.931G>A NP_001372614.1:p.Glu311Lys missense NM_001385686.1:c.982G>A NP_001372615.1:p.Glu328Lys missense NM_001385687.1:c.982G>A NP_001372616.1:p.Glu328Lys missense NM_001385688.1:c.982G>A NP_001372617.1:p.Glu328Lys missense NM_001385689.1:c.982G>A NP_001372618.1:p.Glu328Lys missense NM_002375.5:c.931G>A NP_002366.2:p.Glu311Lys missense NM_030885.1:c.931G>A NP_112147.1:p.Glu311Lys missense NC_000003.12:g.47916896C>T NC_000003.11:g.47958386C>T NG_052840.1:g.177384G>A - Protein change
- E204K, E281K, E288K, E298K, E323K, E339K, E163K, E270K, E285K, E287K, E209K, E232K, E247K, E311K, E328K, E273K, E340K
- Other names
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- Canonical SPDI
- NC_000003.12:47916895:C: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. |
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| 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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Oct 12, 2021 | RCV004112356.1 |
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
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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
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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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Uncertain significance
(Oct 12, 2021)
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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: SCV003579550.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.931G>A (p.E311K) alteration is located in exon 7 (coding exon 6) of the MAP4 gene. This alteration results from a G to A substitution … (more)
The c.931G>A (p.E311K) alteration is located in exon 7 (coding exon 6) of the MAP4 gene. This alteration results from a G to A substitution at nucleotide position 931, causing the glutamic acid (E) at amino acid position 311 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
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:
The c.931G>A (p.E311K) alteration is located in exon 7 (coding exon 6) of the MAP4 gene. This alteration results from a G to A substitution at nucleotide position 931, causing the glutamic acid (E) at amino acid position 311 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
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.