ClinVar Genomic variation as it relates to human health
NM_001385682.1(MAP4):c.219T>G (p.Ile73Met)
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_001385682.1(MAP4):c.219T>G (p.Ile73Met)
Variation ID: 2341705 Accession: VCV002341705.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p21.31 3: 47998642 (GRCh38) [ NCBI UCSC ] 3: 48040132 (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 Dec 2, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001385682.1:c.219T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001372611.1:p.Ile73Met missense NM_001134364.2:c.219T>G NP_001127836.1:p.Ile73Met missense NM_001384675.1:c.219T>G NP_001371604.1:p.Ile73Met missense NM_001384676.1:c.219T>G NP_001371605.1:p.Ile73Met missense NM_001384677.1:c.219T>G NP_001371606.1:p.Ile73Met missense NM_001384678.1:c.219T>G NP_001371607.1:p.Ile73Met missense NM_001384679.1:c.219T>G NP_001371608.1:p.Ile73Met missense NM_001384680.1:c.219T>G NP_001371609.1:p.Ile73Met missense NM_001384681.1:c.219T>G NP_001371610.1:p.Ile73Met missense NM_001384707.1:c.219T>G NP_001371636.1:p.Ile73Met missense NM_001384729.1:c.219T>G NP_001371658.1:p.Ile73Met missense NM_001384730.1:c.219T>G NP_001371659.1:p.Ile73Met missense NM_001384731.1:c.219T>G NP_001371660.1:p.Ile73Met missense NM_001384733.1:c.219T>G NP_001371662.1:p.Ile73Met missense NM_001384734.1:c.219T>G NP_001371663.1:p.Ile73Met missense NM_001384735.1:c.219T>G NP_001371664.1:p.Ile73Met missense NM_001384736.1:c.219T>G NP_001371665.1:p.Ile73Met missense NM_001384737.1:c.219T>G NP_001371666.1:p.Ile73Met missense NM_001384738.1:c.219T>G NP_001371667.1:p.Ile73Met missense NM_001384744.1:c.219T>G NP_001371673.1:p.Ile73Met missense NM_001384745.1:c.219T>G NP_001371674.1:p.Ile73Met missense NM_001384746.1:c.219T>G NP_001371675.1:p.Ile73Met missense NM_001384748.1:c.219T>G NP_001371677.1:p.Ile73Met missense NM_001384751.1:c.219T>G NP_001371680.1:p.Ile73Met missense NM_001384752.1:c.219T>G NP_001371681.1:p.Ile73Met missense NM_001384753.1:c.219T>G NP_001371682.1:p.Ile73Met missense NM_001384754.1:c.219T>G NP_001371683.1:p.Ile73Met missense NM_001384755.1:c.219T>G NP_001371684.1:p.Ile73Met missense NM_001384756.1:c.219T>G NP_001371685.1:p.Ile73Met missense NM_001384757.1:c.219T>G NP_001371686.1:p.Ile73Met missense NM_001384758.1:c.219T>G NP_001371687.1:p.Ile73Met missense NM_001384759.1:c.219T>G NP_001371688.1:p.Ile73Met missense NM_001384760.1:c.219T>G NP_001371689.1:p.Ile73Met missense NM_001384761.1:c.219T>G NP_001371690.1:p.Ile73Met missense NM_001384762.1:c.219T>G NP_001371691.1:p.Ile73Met missense NM_001384774.1:c.219T>G NP_001371703.1:p.Ile73Met missense NM_001384776.1:c.219T>G NP_001371705.1:p.Ile73Met missense NM_001384777.1:c.219T>G NP_001371706.1:p.Ile73Met missense NM_001384778.1:c.219T>G NP_001371707.1:p.Ile73Met missense NM_001384779.1:c.219T>G NP_001371708.1:p.Ile73Met missense NM_001384780.1:c.219T>G NP_001371709.1:p.Ile73Met missense NM_001384781.1:c.219T>G NP_001371710.1:p.Ile73Met missense NM_001384782.1:c.219T>G NP_001371711.1:p.Ile73Met missense NM_001384783.1:c.219T>G NP_001371712.1:p.Ile73Met missense NM_001384784.1:c.219T>G NP_001371713.1:p.Ile73Met missense NM_001384785.1:c.219T>G NP_001371714.1:p.Ile73Met missense NM_001384786.1:c.219T>G NP_001371715.1:p.Ile73Met missense NM_001384787.1:c.219T>G NP_001371716.1:p.Ile73Met missense NM_001384788.1:c.219T>G NP_001371717.1:p.Ile73Met missense NM_001384789.1:c.219T>G NP_001371718.1:p.Ile73Met missense NM_001384790.1:c.219T>G NP_001371719.1:p.Ile73Met missense NM_001384791.1:c.219T>G NP_001371720.1:p.Ile73Met missense NM_001384792.1:c.219T>G NP_001371721.1:p.Ile73Met missense NM_001384793.1:c.219T>G NP_001371722.1:p.Ile73Met missense NM_001384794.1:c.219T>G NP_001371723.1:p.Ile73Met missense NM_001384795.1:c.219T>G NP_001371724.1:p.Ile73Met missense NM_001384796.1:c.219T>G NP_001371725.1:p.Ile73Met missense NM_001384797.1:c.219T>G NP_001371726.1:p.Ile73Met missense NM_001384798.1:c.219T>G NP_001371727.1:p.Ile73Met missense NM_001384800.1:c.219T>G NP_001371729.1:p.Ile73Met missense NM_001384802.1:c.219T>G NP_001371731.1:p.Ile73Met missense NM_001384803.1:c.219T>G NP_001371732.1:p.Ile73Met missense NM_001384804.1:c.219T>G NP_001371733.1:p.Ile73Met missense NM_001384805.1:c.219T>G NP_001371734.1:p.Ile73Met missense NM_001384806.1:c.219T>G NP_001371735.1:p.Ile73Met missense NM_001384807.1:c.219T>G NP_001371736.1:p.Ile73Met missense NM_001384808.1:c.219T>G NP_001371737.1:p.Ile73Met missense NM_001384809.1:c.219T>G NP_001371738.1:p.Ile73Met missense NM_001384810.1:c.219T>G NP_001371739.1:p.Ile73Met missense NM_001384811.1:c.219T>G NP_001371740.1:p.Ile73Met missense NM_001384812.1:c.219T>G NP_001371741.1:p.Ile73Met missense NM_001384813.1:c.219T>G NP_001371742.1:p.Ile73Met missense NM_001384814.1:c.219T>G NP_001371743.1:p.Ile73Met missense NM_001384815.1:c.219T>G NP_001371744.1:p.Ile73Met missense NM_001384816.1:c.219T>G NP_001371745.1:p.Ile73Met missense NM_001384817.1:c.219T>G NP_001371746.1:p.Ile73Met missense NM_001384819.1:c.219T>G NP_001371748.1:p.Ile73Met missense NM_001384820.1:c.219T>G NP_001371749.1:p.Ile73Met missense NM_001384824.1:c.219T>G NP_001371753.1:p.Ile73Met missense NM_001384825.1:c.219T>G NP_001371754.1:p.Ile73Met missense NM_001384826.1:c.219T>G NP_001371755.1:p.Ile73Met missense NM_001384827.1:c.219T>G NP_001371756.1:p.Ile73Met missense NM_001384828.1:c.219T>G NP_001371757.1:p.Ile73Met missense NM_001384831.1:c.219T>G NP_001371760.1:p.Ile73Met missense NM_001384832.1:c.219T>G NP_001371761.1:p.Ile73Met missense NM_001384834.1:c.219T>G NP_001371763.1:p.Ile73Met missense NM_001384835.1:c.219T>G NP_001371764.1:p.Ile73Met missense NM_001384836.1:c.219T>G NP_001371765.1:p.Ile73Met missense NM_001384837.1:c.219T>G NP_001371766.1:p.Ile73Met missense NM_001384838.1:c.219T>G NP_001371767.1:p.Ile73Met missense NM_001384839.1:c.-98-20709T>G intron variant NM_001384840.1:c.219T>G NP_001371769.1:p.Ile73Met missense NM_001384841.1:c.219T>G NP_001371770.1:p.Ile73Met missense NM_001384842.1:c.219T>G NP_001371771.1:p.Ile73Met missense NM_001384843.1:c.219T>G NP_001371772.1:p.Ile73Met missense NM_001384844.1:c.219T>G NP_001371773.1:p.Ile73Met missense NM_001384845.1:c.-98-20709T>G intron variant NM_001384846.1:c.219T>G NP_001371775.1:p.Ile73Met missense NM_001384847.1:c.219T>G NP_001371776.1:p.Ile73Met missense NM_001384848.1:c.219T>G NP_001371777.1:p.Ile73Met missense NM_001384849.1:c.219T>G NP_001371778.1:p.Ile73Met missense NM_001384850.1:c.219T>G NP_001371779.1:p.Ile73Met missense NM_001384851.1:c.219T>G NP_001371780.1:p.Ile73Met missense NM_001384853.1:c.219T>G NP_001371782.1:p.Ile73Met missense NM_001384856.1:c.219T>G NP_001371785.1:p.Ile73Met missense NM_001384857.1:c.219T>G NP_001371786.1:p.Ile73Met missense NM_001384859.1:c.219T>G NP_001371788.1:p.Ile73Met missense NM_001384861.1:c.219T>G NP_001371790.1:p.Ile73Met missense NM_001384862.1:c.-98-20709T>G intron variant NM_001384863.1:c.219T>G NP_001371792.1:p.Ile73Met missense NM_001384864.1:c.219T>G NP_001371793.1:p.Ile73Met missense NM_001384866.1:c.219T>G NP_001371795.1:p.Ile73Met missense NM_001384867.1:c.-98-20709T>G intron variant NM_001384868.1:c.219T>G NP_001371797.1:p.Ile73Met missense NM_001384869.1:c.219T>G NP_001371798.1:p.Ile73Met missense NM_001384870.1:c.219T>G NP_001371799.1:p.Ile73Met missense NM_001384871.1:c.219T>G NP_001371800.1:p.Ile73Met missense NM_001384872.1:c.219T>G NP_001371801.1:p.Ile73Met missense NM_001384873.1:c.219T>G NP_001371802.1:p.Ile73Met missense NM_001384874.1:c.219T>G NP_001371803.1:p.Ile73Met missense NM_001384875.1:c.219T>G NP_001371804.1:p.Ile73Met missense NM_001384876.1:c.219T>G NP_001371805.1:p.Ile73Met missense NM_001384877.1:c.219T>G NP_001371806.1:p.Ile73Met missense NM_001384878.1:c.219T>G NP_001371807.1:p.Ile73Met missense NM_001384879.1:c.219T>G NP_001371808.1:p.Ile73Met missense NM_001384892.1:c.219T>G NP_001371821.1:p.Ile73Met missense NM_001384893.1:c.219T>G NP_001371822.1:p.Ile73Met missense NM_001385664.1:c.219T>G NP_001372593.1:p.Ile73Met missense NM_001385665.1:c.219T>G NP_001372594.1:p.Ile73Met missense NM_001385675.1:c.219T>G NP_001372604.1:p.Ile73Met missense NM_001385676.1:c.219T>G NP_001372605.1:p.Ile73Met missense NM_001385677.1:c.219T>G NP_001372606.1:p.Ile73Met missense NM_001385681.1:c.219T>G NP_001372610.1:p.Ile73Met missense NM_001385684.1:c.219T>G NP_001372613.1:p.Ile73Met missense NM_001385685.1:c.219T>G NP_001372614.1:p.Ile73Met missense NM_001385686.1:c.219T>G NP_001372615.1:p.Ile73Met missense NM_001385687.1:c.219T>G NP_001372616.1:p.Ile73Met missense NM_001385688.1:c.219T>G NP_001372617.1:p.Ile73Met missense NM_001385689.1:c.219T>G NP_001372618.1:p.Ile73Met missense NM_001385690.1:c.219T>G NP_001372619.1:p.Ile73Met missense NM_001385691.1:c.219T>G NP_001372620.1:p.Ile73Met missense NM_001385692.1:c.219T>G NP_001372621.1:p.Ile73Met missense NM_002375.5:c.219T>G NP_002366.2:p.Ile73Met missense NM_030885.4:c.219T>G NP_112147.2:p.Ile73Met missense NM_030983.1:c.219T>G NP_112245.1:p.Ile73Met missense NC_000003.12:g.47998642A>C NC_000003.11:g.48040132A>C NG_052840.1:g.95638T>G - Protein change
- I73M
- Other names
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- Canonical SPDI
- NC_000003.12:47998641:A:C
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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 | ||
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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 |
99 | 114 |
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. |
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Uncertain significance (1) |
criteria provided, single submitter
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Dec 2, 2022 | RCV004185632.1 |
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
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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Uncertain significance
(Dec 02, 2022)
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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: SCV003679442.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.219T>G (p.I73M) alteration is located in exon 2 (coding exon 1) of the MAP4 gene. This alteration results from a T to G substitution … (more)
The c.219T>G (p.I73M) alteration is located in exon 2 (coding exon 1) of the MAP4 gene. This alteration results from a T to G substitution at nucleotide position 219, causing the isoleucine (I) at amino acid position 73 to be replaced by a methionine (M). 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 this variant ...
HelpRecord last updated May 19, 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.