The c.2237G>C (p.G746A) alteration is located in exon 10 (coding exon 9) of the MAP4 gene. This alteration results from a G to C substitution at nucleotide position 2237, causing the glycine (G) at amino acid position 746 to be replaced by an alanine (A). 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.5672G>C (p.Gly1891Ala)
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.5672G>C (p.Gly1891Ala)
Variation ID: 3123056 Accession: VCV003123056.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p21.31 3: 47875770 (GRCh38) [ NCBI UCSC ] 3: 47917260 (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 May 1, 2024 May 1, 2024 Jan 16, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001385682.1:c.5672G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001372611.1:p.Gly1891Ala missense NM_001134364.2:c.2237G>C NP_001127836.1:p.Gly746Ala missense NM_001384675.1:c.2114G>C NP_001371604.1:p.Gly705Ala missense NM_001384676.1:c.2237G>C NP_001371605.1:p.Gly746Ala missense NM_001384677.1:c.2237G>C NP_001371606.1:p.Gly746Ala missense NM_001384678.1:c.2273G>C NP_001371607.1:p.Gly758Ala missense NM_001384679.1:c.2288G>C NP_001371608.1:p.Gly763Ala missense NM_001384680.1:c.1931G>C NP_001371609.1:p.Gly644Ala missense NM_001384681.1:c.2114G>C NP_001371610.1:p.Gly705Ala missense NM_001384707.1:c.2039G>C NP_001371636.1:p.Gly680Ala missense NM_001384729.1:c.2237G>C NP_001371658.1:p.Gly746Ala missense NM_001384730.1:c.2168G>C NP_001371659.1:p.Gly723Ala missense NM_001384731.1:c.2288G>C NP_001371660.1:p.Gly763Ala missense NM_001384733.1:c.2162G>C NP_001371662.1:p.Gly721Ala missense NM_001384734.1:c.2237G>C NP_001371663.1:p.Gly746Ala missense NM_001384735.1:c.2237G>C NP_001371664.1:p.Gly746Ala missense NM_001384736.1:c.2288G>C NP_001371665.1:p.Gly763Ala missense NM_001384737.1:c.2162G>C NP_001371666.1:p.Gly721Ala missense NM_001384738.1:c.2273G>C NP_001371667.1:p.Gly758Ala missense NM_001384744.1:c.2165G>C NP_001371673.1:p.Gly722Ala missense NM_001384745.1:c.2324G>C NP_001371674.1:p.Gly775Ala missense NM_001384746.1:c.2045G>C NP_001371675.1:p.Gly682Ala missense NM_001384748.1:c.2273G>C NP_001371677.1:p.Gly758Ala missense NM_001384751.1:c.2237G>C NP_001371680.1:p.Gly746Ala missense NM_001384752.1:c.2106+1647G>C intron variant NM_001384753.1:c.1970G>C NP_001371682.1:p.Gly657Ala missense NM_001384754.1:c.2237G>C NP_001371683.1:p.Gly746Ala missense NM_001384755.1:c.2114G>C NP_001371684.1:p.Gly705Ala missense NM_001384756.1:c.2237G>C NP_001371685.1:p.Gly746Ala missense NM_001384757.1:c.2045G>C NP_001371686.1:p.Gly682Ala missense NM_001384758.1:c.2123G>C NP_001371687.1:p.Gly708Ala missense NM_001384759.1:c.2039G>C NP_001371688.1:p.Gly680Ala missense NM_001384760.1:c.1983+1647G>C intron variant NM_001384761.1:c.2162G>C NP_001371690.1:p.Gly721Ala missense NM_001384762.1:c.1013G>C NP_001371691.1:p.Gly338Ala missense NM_001384774.1:c.2237G>C NP_001371703.1:p.Gly746Ala missense NM_001384776.1:c.2123G>C NP_001371705.1:p.Gly708Ala missense NM_001384777.1:c.2168G>C NP_001371706.1:p.Gly723Ala missense NM_001384778.1:c.1604G>C NP_001371707.1:p.Gly535Ala missense NM_001384779.1:c.2106+1647G>C intron variant NM_001384780.1:c.2037+1647G>C intron variant NM_001384781.1:c.2237G>C NP_001371710.1:p.Gly746Ala missense NM_001384782.1:c.2168G>C NP_001371711.1:p.Gly723Ala missense NM_001384783.1:c.2168G>C NP_001371712.1:p.Gly723Ala missense NM_001384784.1:c.882+1647G>C intron variant NM_001384785.1:c.2106+1647G>C intron variant NM_001384786.1:c.2168G>C NP_001371715.1:p.Gly723Ala missense NM_001384787.1:c.2037+1647G>C intron variant NM_001384788.1:c.2288G>C NP_001371717.1:p.Gly763Ala missense NM_001384789.1:c.2034+1647G>C intron variant NM_001384790.1:c.2288G>C NP_001371719.1:p.Gly763Ala missense NM_001384791.1:c.2165G>C NP_001371720.1:p.Gly722Ala missense NM_001384792.1:c.2288G>C NP_001371721.1:p.Gly763Ala missense NM_001384793.1:c.2090G>C NP_001371722.1:p.Gly697Ala missense NM_001384794.1:c.2157+1647G>C intron variant NM_001384795.1:c.2324G>C NP_001371724.1:p.Gly775Ala missense NM_001384796.1:c.2288G>C NP_001371725.1:p.Gly763Ala missense NM_001384797.1:c.2165G>C NP_001371726.1:p.Gly722Ala missense NM_001384798.1:c.2237G>C NP_001371727.1:p.Gly746Ala missense NM_001384800.1:c.2237G>C NP_001371729.1:p.Gly746Ala missense NM_001384802.1:c.767G>C NP_001371731.1:p.Gly256Ala missense NM_001384803.1:c.2000G>C NP_001371732.1:p.Gly667Ala missense NM_001384804.1:c.2042G>C NP_001371733.1:p.Gly681Ala missense NM_001384805.1:c.1983+1647G>C intron variant NM_001384806.1:c.2114G>C NP_001371735.1:p.Gly705Ala missense NM_001384807.1:c.2000G>C NP_001371736.1:p.Gly667Ala missense NM_001384808.1:c.767G>C NP_001371737.1:p.Gly256Ala missense NM_001384809.1:c.2106+1647G>C intron variant NM_001384810.1:c.2237G>C NP_001371739.1:p.Gly746Ala missense NM_001384811.1:c.2037+1647G>C intron variant NM_001384812.1:c.767G>C NP_001371741.1:p.Gly256Ala missense NM_001384813.1:c.935G>C NP_001371742.1:p.Gly312Ala missense NM_001384814.1:c.2237G>C NP_001371743.1:p.Gly746Ala missense NM_001384815.1:c.767G>C NP_001371744.1:p.Gly256Ala missense NM_001384816.1:c.2168G>C NP_001371745.1:p.Gly723Ala missense NM_001384817.1:c.698G>C NP_001371746.1:p.Gly233Ala missense NM_001384819.1:c.2237G>C NP_001371748.1:p.Gly746Ala missense NM_001384820.1:c.2162G>C NP_001371749.1:p.Gly721Ala missense NM_001384824.1:c.2162G>C NP_001371753.1:p.Gly721Ala missense NM_001384825.1:c.2123G>C NP_001371754.1:p.Gly708Ala missense NM_001384826.1:c.1983+1647G>C intron variant NM_001384827.1:c.2165G>C NP_001371756.1:p.Gly722Ala missense NM_001384828.1:c.2168G>C NP_001371757.1:p.Gly723Ala missense NM_001384831.1:c.2106+1647G>C intron variant NM_001384832.1:c.2123G>C NP_001371761.1:p.Gly708Ala missense NM_001384834.1:c.2147G>C NP_001371763.1:p.Gly716Ala missense NM_001384835.1:c.636+1647G>C intron variant NM_001384836.1:c.2114G>C NP_001371765.1:p.Gly705Ala missense NM_001384837.1:c.2114G>C NP_001371766.1:p.Gly705Ala missense NM_001384838.1:c.2210G>C NP_001371767.1:p.Gly737Ala missense NM_001384839.1:c.1916G>C NP_001371768.1:p.Gly639Ala missense NM_001384840.1:c.2106+1647G>C intron variant NM_001384841.1:c.2123G>C NP_001371770.1:p.Gly708Ala missense NM_001384842.1:c.1869+1647G>C intron variant NM_001384843.1:c.2000G>C NP_001371772.1:p.Gly667Ala missense NM_001384844.1:c.2106+1647G>C intron variant NM_001384845.1:c.1916G>C NP_001371774.1:p.Gly639Ala missense NM_001384846.1:c.2237G>C NP_001371775.1:p.Gly746Ala missense NM_001384847.1:c.2106+1647G>C intron variant NM_001384848.1:c.2237G>C NP_001371777.1:p.Gly746Ala missense NM_001384849.1:c.2198G>C NP_001371778.1:p.Gly733Ala missense NM_001384850.1:c.2039G>C NP_001371779.1:p.Gly680Ala missense NM_001384851.1:c.1992+1647G>C intron variant NM_001384853.1:c.2114G>C NP_001371782.1:p.Gly705Ala missense NM_001384856.1:c.1604G>C NP_001371785.1:p.Gly535Ala missense NM_001384857.1:c.2168G>C NP_001371786.1:p.Gly723Ala missense NM_001384859.1:c.2159G>C NP_001371788.1:p.Gly720Ala missense NM_001384861.1:c.2106+1647G>C intron variant NM_001384862.1:c.1718G>C NP_001371791.1:p.Gly573Ala missense NM_001384863.1:c.2321G>C NP_001371792.1:p.Gly774Ala missense NM_001384864.1:c.2045G>C NP_001371793.1:p.Gly682Ala missense NM_001384866.1:c.1983+1647G>C intron variant NM_001384867.1:c.1916G>C NP_001371796.1:p.Gly639Ala missense NM_001384868.1:c.2114G>C NP_001371797.1:p.Gly705Ala missense NM_001384869.1:c.2168G>C NP_001371798.1:p.Gly723Ala missense NM_001384870.1:c.2106+1647G>C intron variant NM_001384871.1:c.2165G>C NP_001371800.1:p.Gly722Ala missense NM_001384872.1:c.2273G>C NP_001371801.1:p.Gly758Ala missense NM_001384873.1:c.2159G>C NP_001371802.1:p.Gly720Ala missense NM_001384874.1:c.2147G>C NP_001371803.1:p.Gly716Ala missense NM_001384875.1:c.2273G>C NP_001371804.1:p.Gly758Ala missense NM_001384876.1:c.2123G>C NP_001371805.1:p.Gly708Ala missense NM_001384877.1:c.890G>C NP_001371806.1:p.Gly297Ala missense NM_001384878.1:c.2114G>C NP_001371807.1:p.Gly705Ala missense NM_001384879.1:c.2237G>C NP_001371808.1:p.Gly746Ala missense NM_001384892.1:c.2147G>C NP_001371821.1:p.Gly716Ala missense NM_001384893.1:c.2114G>C NP_001371822.1:p.Gly705Ala missense NM_001385664.1:c.5552G>C NP_001372593.1:p.Gly1851Ala missense NM_001385665.1:c.2237G>C NP_001372594.1:p.Gly746Ala missense NM_001385675.1:c.2273G>C NP_001372604.1:p.Gly758Ala missense NM_001385676.1:c.1914+1647G>C intron variant NM_001385677.1:c.2237G>C NP_001372606.1:p.Gly746Ala missense NM_001385681.1:c.2288G>C NP_001372610.1:p.Gly763Ala missense NM_001385684.1:c.2237G>C NP_001372613.1:p.Gly746Ala missense NM_001385685.1:c.2106+1647G>C intron variant NM_001385686.1:c.2288G>C NP_001372615.1:p.Gly763Ala missense NM_001385687.1:c.5672G>C NP_001372616.1:p.Gly1891Ala missense NM_001385688.1:c.5600G>C NP_001372617.1:p.Gly1867Ala missense NM_001385689.1:c.5672G>C NP_001372618.1:p.Gly1891Ala missense NM_002375.5:c.2237G>C NP_002366.2:p.Gly746Ala missense NM_030885.1:c.2237G>C NP_112147.1:p.Gly746Ala missense NC_000003.12:g.47875770C>G NC_000003.11:g.47917260C>G NG_052840.1:g.218510G>C - Protein change
- G256A, G312A, G682A, G697A, G722A, G733A, G737A, G774A, G1891A, G657A, G667A, G681A, G746A, G680A, G705A, G716A, G720A, G758A, G763A, G1851A, G1867A, G233A, G297A, G338A, G535A, G573A, G639A, G644A, G708A, G721A, G723A, G775A
- Other names
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- Canonical SPDI
- NC_000003.12:47875769:C:G
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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
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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
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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Jan 16, 2024 | RCV004408426.1 |
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
(Jan 16, 2024)
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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: SCV004901355.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.2237G>C (p.G746A) alteration is located in exon 10 (coding exon 9) of the MAP4 gene. This alteration results from a G to C substitution … (more)
The c.2237G>C (p.G746A) alteration is located in exon 10 (coding exon 9) of the MAP4 gene. This alteration results from a G to C substitution at nucleotide position 2237, causing the glycine (G) at amino acid position 746 to be replaced by an alanine (A). 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.2237G>C (p.G746A) alteration is located in exon 10 (coding exon 9) of the MAP4 gene. This alteration results from a G to C substitution at nucleotide position 2237, causing the glycine (G) at amino acid position 746 to be replaced by an alanine (A). 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 03, 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.