ClinVar Genomic variation as it relates to human health
NM_001385682.1(MAP4):c.6755C>T (p.Pro2252Leu)
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.6755C>T (p.Pro2252Leu)
Variation ID: 2470328 Accession: VCV002470328.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p21.31 3: 47853294 (GRCh38) [ NCBI UCSC ] 3: 47894784 (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 Apr 15, 2023 May 1, 2024 Jan 6, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001385682.1:c.6755C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001372611.1:p.Pro2252Leu missense NM_001134364.2:c.3262-356C>T intron variant NM_001384675.1:c.2990C>T NP_001371604.1:p.Pro997Leu missense NM_001384676.1:c.3275C>T NP_001371605.1:p.Pro1092Leu missense NM_001384677.1:c.3068C>T NP_001371606.1:p.Pro1023Leu missense NM_001384678.1:c.3149C>T NP_001371607.1:p.Pro1050Leu missense NM_001384679.1:c.3326C>T NP_001371608.1:p.Pro1109Leu missense NM_001384680.1:c.3014C>T NP_001371609.1:p.Pro1005Leu missense NM_001384681.1:c.3139-356C>T intron variant NM_001384707.1:c.3122C>T NP_001371636.1:p.Pro1041Leu missense NM_001384729.1:c.3320C>T NP_001371658.1:p.Pro1107Leu missense NM_001384730.1:c.3251C>T NP_001371659.1:p.Pro1084Leu missense NM_001384731.1:c.3326C>T NP_001371660.1:p.Pro1109Leu missense NM_001384733.1:c.3038C>T NP_001371662.1:p.Pro1013Leu missense NM_001384734.1:c.3206C>T NP_001371663.1:p.Pro1069Leu missense NM_001384735.1:c.3113C>T NP_001371664.1:p.Pro1038Leu missense NM_001384736.1:c.3371C>T NP_001371665.1:p.Pro1124Leu missense NM_001384737.1:c.3245C>T NP_001371666.1:p.Pro1082Leu missense NM_001384738.1:c.3356C>T NP_001371667.1:p.Pro1119Leu missense NM_001384744.1:c.3248C>T NP_001371673.1:p.Pro1083Leu missense NM_001384745.1:c.3407C>T NP_001371674.1:p.Pro1136Leu missense NM_001384746.1:c.3083C>T NP_001371675.1:p.Pro1028Leu missense NM_001384748.1:c.3356C>T NP_001371677.1:p.Pro1119Leu missense NM_001384751.1:c.3107C>T NP_001371680.1:p.Pro1036Leu missense NM_001384752.1:c.2897C>T NP_001371681.1:p.Pro966Leu missense NM_001384753.1:c.3008C>T NP_001371682.1:p.Pro1003Leu missense NM_001384754.1:c.3227C>T NP_001371683.1:p.Pro1076Leu missense NM_001384755.1:c.2990C>T NP_001371684.1:p.Pro997Leu missense NM_001384756.1:c.3217-356C>T intron variant NM_001384757.1:c.2921C>T NP_001371686.1:p.Pro974Leu missense NM_001384758.1:c.2954C>T NP_001371687.1:p.Pro985Leu missense NM_001384759.1:c.2870C>T NP_001371688.1:p.Pro957Leu missense NM_001384760.1:c.2774C>T NP_001371689.1:p.Pro925Leu missense NM_001384761.1:c.3038C>T NP_001371690.1:p.Pro1013Leu missense NM_001384762.1:c.1889C>T NP_001371691.1:p.Pro630Leu missense NM_001384774.1:c.3275C>T NP_001371703.1:p.Pro1092Leu missense NM_001384776.1:c.3149C>T NP_001371705.1:p.Pro1050Leu missense NM_001384777.1:c.3158C>T NP_001371706.1:p.Pro1053Leu missense NM_001384778.1:c.2687C>T NP_001371707.1:p.Pro896Leu missense NM_001384779.1:c.3104C>T NP_001371708.1:p.Pro1035Leu missense NM_001384780.1:c.3035C>T NP_001371709.1:p.Pro1012Leu missense NM_001384781.1:c.3227C>T NP_001371710.1:p.Pro1076Leu missense NM_001384782.1:c.3206C>T NP_001371711.1:p.Pro1069Leu missense NM_001384783.1:c.3044C>T NP_001371712.1:p.Pro1015Leu missense NM_001384784.1:c.1628C>T NP_001371713.1:p.Pro543Leu missense NM_001384785.1:c.2852C>T NP_001371714.1:p.Pro951Leu missense NM_001384786.1:c.3137C>T NP_001371715.1:p.Pro1046Leu missense NM_001384787.1:c.2828C>T NP_001371716.1:p.Pro943Leu missense NM_001384788.1:c.3371C>T NP_001371717.1:p.Pro1124Leu missense NM_001384789.1:c.2780C>T NP_001371718.1:p.Pro927Leu missense NM_001384790.1:c.3164C>T NP_001371719.1:p.Pro1055Leu missense NM_001384791.1:c.3248C>T NP_001371720.1:p.Pro1083Leu missense NM_001384792.1:c.3164C>T NP_001371721.1:p.Pro1055Leu missense NM_001384793.1:c.2921C>T NP_001371722.1:p.Pro974Leu missense NM_001384794.1:c.3041C>T NP_001371723.1:p.Pro1014Leu missense NM_001384795.1:c.3407C>T NP_001371724.1:p.Pro1136Leu missense NM_001384796.1:c.3257C>T NP_001371725.1:p.Pro1086Leu missense NM_001384797.1:c.3203C>T NP_001371726.1:p.Pro1068Leu missense NM_001384798.1:c.3320C>T NP_001371727.1:p.Pro1107Leu missense NM_001384800.1:c.3068C>T NP_001371729.1:p.Pro1023Leu missense NM_001384802.1:c.1850C>T NP_001371731.1:p.Pro617Leu missense NM_001384803.1:c.2876C>T NP_001371732.1:p.Pro959Leu missense NM_001384804.1:c.3080C>T NP_001371733.1:p.Pro1027Leu missense NM_001384805.1:c.2774C>T NP_001371734.1:p.Pro925Leu missense NM_001384806.1:c.3083C>T NP_001371735.1:p.Pro1028Leu missense NM_001384807.1:c.2876C>T NP_001371736.1:p.Pro959Leu missense NM_001384808.1:c.1850C>T NP_001371737.1:p.Pro617Leu missense NM_001384809.1:c.2897C>T NP_001371738.1:p.Pro966Leu missense NM_001384810.1:c.3113C>T NP_001371739.1:p.Pro1038Leu missense NM_001384811.1:c.2828C>T NP_001371740.1:p.Pro943Leu missense NM_001384812.1:c.1598C>T NP_001371741.1:p.Pro533Leu missense NM_001384813.1:c.2018C>T NP_001371742.1:p.Pro673Leu missense NM_001384814.1:c.3206C>T NP_001371743.1:p.Pro1069Leu missense NM_001384815.1:c.1643C>T NP_001371744.1:p.Pro548Leu missense NM_001384816.1:c.3251C>T NP_001371745.1:p.Pro1084Leu missense NM_001384817.1:c.1736C>T NP_001371746.1:p.Pro579Leu missense NM_001384819.1:c.3062C>T NP_001371748.1:p.Pro1021Leu missense NM_001384820.1:c.3245C>T NP_001371749.1:p.Pro1082Leu missense NM_001384824.1:c.3131C>T NP_001371753.1:p.Pro1044Leu missense NM_001384825.1:c.2999C>T NP_001371754.1:p.Pro1000Leu missense NM_001384826.1:c.2867C>T NP_001371755.1:p.Pro956Leu missense NM_001384827.1:c.3041C>T NP_001371756.1:p.Pro1014Leu missense NM_001384828.1:c.3137C>T NP_001371757.1:p.Pro1046Leu missense NM_001384831.1:c.3059C>T NP_001371760.1:p.Pro1020Leu missense NM_001384832.1:c.3206C>T NP_001371761.1:p.Pro1069Leu missense NM_001384834.1:c.3230C>T NP_001371763.1:p.Pro1077Leu missense NM_001384835.1:c.1427C>T NP_001371764.1:p.Pro476Leu missense NM_001384836.1:c.3197C>T NP_001371765.1:p.Pro1066Leu missense NM_001384837.1:c.3152C>T NP_001371766.1:p.Pro1051Leu missense NM_001384838.1:c.3293C>T NP_001371767.1:p.Pro1098Leu missense NM_001384839.1:c.2999C>T NP_001371768.1:p.Pro1000Leu missense NM_001384840.1:c.2990C>T NP_001371769.1:p.Pro997Leu missense NM_001384841.1:c.2954C>T NP_001371770.1:p.Pro985Leu missense NM_001384842.1:c.2867C>T NP_001371771.1:p.Pro956Leu missense NM_001384843.1:c.3083C>T NP_001371772.1:p.Pro1028Leu missense NM_001384844.1:c.2897C>T NP_001371773.1:p.Pro966Leu missense NM_001384845.1:c.2954C>T NP_001371774.1:p.Pro985Leu missense NM_001384846.1:c.3161C>T NP_001371775.1:p.Pro1054Leu missense NM_001384847.1:c.3104C>T NP_001371776.1:p.Pro1035Leu missense NM_001384848.1:c.3113C>T NP_001371777.1:p.Pro1038Leu missense NM_001384849.1:c.3281C>T NP_001371778.1:p.Pro1094Leu missense NM_001384850.1:c.3122C>T NP_001371779.1:p.Pro1041Leu missense NM_001384851.1:c.2990C>T NP_001371780.1:p.Pro997Leu missense NM_001384853.1:c.3038C>T NP_001371782.1:p.Pro1013Leu missense NM_001384856.1:c.2480C>T NP_001371785.1:p.Pro827Leu missense NM_001384857.1:c.2999C>T NP_001371786.1:p.Pro1000Leu missense NM_001384859.1:c.2990C>T NP_001371788.1:p.Pro997Leu missense NM_001384861.1:c.2852C>T NP_001371790.1:p.Pro951Leu missense NM_001384862.1:c.2594C>T NP_001371791.1:p.Pro865Leu missense NM_001384863.1:c.3197C>T NP_001371792.1:p.Pro1066Leu missense NM_001384864.1:c.3128C>T NP_001371793.1:p.Pro1043Leu missense NM_001384866.1:c.2981C>T NP_001371795.1:p.Pro994Leu missense NM_001384867.1:c.2999C>T NP_001371796.1:p.Pro1000Leu missense NM_001384868.1:c.3197C>T NP_001371797.1:p.Pro1066Leu missense NM_001384869.1:c.3044C>T NP_001371798.1:p.Pro1015Leu missense NM_001384870.1:c.2990C>T NP_001371799.1:p.Pro997Leu missense NM_001384871.1:c.3248C>T NP_001371800.1:p.Pro1083Leu missense NM_001384872.1:c.3104C>T NP_001371801.1:p.Pro1035Leu missense NM_001384873.1:c.3242C>T NP_001371802.1:p.Pro1081Leu missense NM_001384874.1:c.3116C>T NP_001371803.1:p.Pro1039Leu missense NM_001384875.1:c.3311C>T NP_001371804.1:p.Pro1104Leu missense NM_001384876.1:c.3206C>T NP_001371805.1:p.Pro1069Leu missense NM_001384877.1:c.1973C>T NP_001371806.1:p.Pro658Leu missense NM_001384878.1:c.2990C>T NP_001371807.1:p.Pro997Leu missense NM_001384879.1:c.3269C>T NP_001371808.1:p.Pro1090Leu missense NM_001384892.1:c.3230C>T NP_001371821.1:p.Pro1077Leu missense NM_001384893.1:c.2945C>T NP_001371822.1:p.Pro982Leu missense NM_001385664.1:c.6521C>T NP_001372593.1:p.Pro2174Leu missense NM_001385665.1:c.3320C>T NP_001372594.1:p.Pro1107Leu missense NM_001385675.1:c.3242C>T NP_001372604.1:p.Pro1081Leu missense NM_001385676.1:c.2912C>T NP_001372605.1:p.Pro971Leu missense NM_001385677.1:c.3206C>T NP_001372606.1:p.Pro1069Leu missense NM_001385681.1:c.3257C>T NP_001372610.1:p.Pro1086Leu missense NM_001385684.1:c.3161C>T NP_001372613.1:p.Pro1054Leu missense NM_001385685.1:c.3104C>T NP_001372614.1:p.Pro1035Leu missense NM_001385686.1:c.3371C>T NP_001372615.1:p.Pro1124Leu missense NM_001385687.1:c.6755C>T NP_001372616.1:p.Pro2252Leu missense NM_001385688.1:c.6524C>T NP_001372617.1:p.Pro2175Leu missense NM_001385689.1:c.6641C>T NP_001372618.1:p.Pro2214Leu missense NM_002375.5:c.3320C>T NP_002366.2:p.Pro1107Leu missense NM_030885.1:c.3113C>T NP_112147.1:p.Pro1038Leu missense NM_030983.1:c.2990C>T NP_112245.1:p.Pro997Leu missense NC_000003.12:g.47853294G>A NC_000003.11:g.47894784G>A NG_052840.1:g.240986C>T - Protein change
- P1000L, P1012L, P1015L, P1023L, P1028L, P1039L, P1041L, P1053L, P1084L, P2174L, P2252L, P579L, P617L, P673L, P827L, P957L, P985L, P1021L, P1038L, P1077L, P1081L, P1083L, P1086L, P1094L, P1109L, P2175L, P2214L, P476L, P630L, P896L, P956L, P959L, P966L, P997L, P1003L, P1013L, P1020L, P1027L, P1035L, P1043L, P1046L, P1050L, P1055L, P1066L, P1069L, P1076L, P1082L, P1090L, P1104L, P1119L, P533L, P548L, P658L, P865L, P925L, P951L, P974L, P1005L, P1014L, P1036L, P1044L, P1051L, P1054L, P1068L, P1092L, P1098L, P1107L, P1124L, P1136L, P543L, P927L, P943L, P971L, P982L, P994L
- Other names
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- Canonical SPDI
- NC_000003.12:47853293:G:A
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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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Likely benign (1) |
criteria provided, single submitter
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Jan 6, 2023 | RCV004263788.1 |
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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Likely benign
(Jan 06, 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: SCV003885602.2
First in ClinVar: Apr 15, 2023 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (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 12, 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.