The c.3665C>T (p.T1222I) alteration is located in exon 30 (coding exon 30) of the MAP4K4 gene. This alteration results from a C to T substitution at nucleotide position 3665, causing the threonine (T) at amino acid position 1222 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001395002.1(MAP4K4):c.3998C>T (p.Thr1333Ile)
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_001395002.1(MAP4K4):c.3998C>T (p.Thr1333Ile)
Variation ID: 3123124 Accession: VCV003123124.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2q11.2 2: 101888862 (GRCh38) [ NCBI UCSC ] 2: 102505324 (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 Mar 12, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001395002.1:c.3998C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001381931.1:p.Thr1333Ile missense NM_001242559.2:c.3563C>T NP_001229488.1:p.Thr1188Ile missense NM_001242560.2:c.3551C>T NP_001229489.1:p.Thr1184Ile missense NM_001384476.1:c.3641C>T NP_001371405.1:p.Thr1214Ile missense NM_001384477.1:c.3830C>T NP_001371406.1:p.Thr1277Ile missense NM_001384478.1:c.3320C>T NP_001371407.1:p.Thr1107Ile missense NM_001384480.1:c.3512C>T NP_001371409.1:p.Thr1171Ile missense NM_001384481.1:c.3782C>T NP_001371410.1:p.Thr1261Ile missense NM_001384482.1:c.3311C>T NP_001371411.1:p.Thr1104Ile missense NM_001384483.1:c.3593C>T NP_001371412.1:p.Thr1198Ile missense NM_001384484.1:c.3644C>T NP_001371413.1:p.Thr1215Ile missense NM_001384485.1:c.3668C>T NP_001371414.1:p.Thr1223Ile missense NM_001384486.1:c.3767C>T NP_001371415.1:p.Thr1256Ile missense NM_001384487.1:c.3734C>T NP_001371416.1:p.Thr1245Ile missense NM_001384488.1:c.3764C>T NP_001371417.1:p.Thr1255Ile missense NM_001384489.1:c.2846C>T NP_001371418.1:p.Thr949Ile missense NM_001384490.1:c.3413C>T NP_001371419.1:p.Thr1138Ile missense NM_001384491.1:c.3548C>T NP_001371420.1:p.Thr1183Ile missense NM_001384492.1:c.3902C>T NP_001371421.1:p.Thr1301Ile missense NM_001384493.1:c.3836C>T NP_001371422.1:p.Thr1279Ile missense NM_001384494.1:c.3410C>T NP_001371423.1:p.Thr1137Ile missense NM_001384495.1:c.3512C>T NP_001371424.1:p.Thr1171Ile missense NM_001384496.1:c.3620C>T NP_001371425.1:p.Thr1207Ile missense NM_001384497.1:c.3989C>T NP_001371426.1:p.Thr1330Ile missense NM_001384505.1:c.2282C>T NP_001371434.1:p.Thr761Ile missense NM_001384506.1:c.3806C>T NP_001371435.1:p.Thr1269Ile missense NM_001384507.1:c.3575C>T NP_001371436.1:p.Thr1192Ile missense NM_001384508.1:c.3638C>T NP_001371437.1:p.Thr1213Ile missense NM_001384509.1:c.3731C>T NP_001371438.1:p.Thr1244Ile missense NM_001384520.1:c.3704C>T NP_001371449.1:p.Thr1235Ile missense NM_001384543.1:c.3713C>T NP_001371472.1:p.Thr1238Ile missense NM_001384544.1:c.2921C>T NP_001371473.1:p.Thr974Ile missense NM_001384545.1:c.2729C>T NP_001371474.1:p.Thr910Ile missense NM_001384548.1:c.3749C>T NP_001371477.1:p.Thr1250Ile missense NM_001384549.1:c.3485C>T NP_001371478.1:p.Thr1162Ile missense NM_001384550.1:c.3530C>T NP_001371479.1:p.Thr1177Ile missense NM_001384551.1:c.3455C>T NP_001371480.1:p.Thr1152Ile missense NM_001384552.1:c.3614C>T NP_001371481.1:p.Thr1205Ile missense NM_001384553.1:c.3803C>T NP_001371482.1:p.Thr1268Ile missense NM_001384554.1:c.3539C>T NP_001371483.1:p.Thr1180Ile missense NM_001384555.1:c.3809C>T NP_001371484.1:p.Thr1270Ile missense NM_001384556.1:c.3608C>T NP_001371485.1:p.Thr1203Ile missense NM_001384557.1:c.3446C>T NP_001371486.1:p.Thr1149Ile missense NM_001384558.1:c.3524C>T NP_001371487.1:p.Thr1175Ile missense NM_001384559.1:c.3482C>T NP_001371488.1:p.Thr1161Ile missense NM_001384560.1:c.3377C>T NP_001371489.1:p.Thr1126Ile missense NM_001384561.1:c.3293C>T NP_001371490.1:p.Thr1098Ile missense NM_001384562.1:c.3611C>T NP_001371491.1:p.Thr1204Ile missense NM_001384563.1:c.3800C>T NP_001371492.1:p.Thr1267Ile missense NM_001384564.1:c.3869C>T NP_001371493.1:p.Thr1290Ile missense NM_001384567.1:c.3716C>T NP_001371496.1:p.Thr1239Ile missense NM_001384572.1:c.3617C>T NP_001371501.1:p.Thr1206Ile missense NM_001384579.1:c.3548C>T NP_001371508.1:p.Thr1183Ile missense NM_004834.5:c.3341C>T NP_004825.3:p.Thr1114Ile missense NM_145686.4:c.3665C>T NP_663719.2:p.Thr1222Ile missense NM_145687.4:c.3482C>T NP_663720.1:p.Thr1161Ile missense NR_169279.1:n.3963C>T non-coding transcript variant NR_169280.1:n.4038C>T non-coding transcript variant NR_169281.1:n.3846C>T non-coding transcript variant NR_169282.1:n.3399C>T non-coding transcript variant NC_000002.12:g.101888862C>T NC_000002.11:g.102505324C>T - Protein change
- T1098I, T1203I, T1204I, T1205I, T1222I, T1223I, T1235I, T1239I, T1245I, T1250I, T1277I, T1290I, T761I, T1107I, T1126I, T1149I, T1171I, T1206I, T1207I, T1238I, T1244I, T1256I, T1267I, T1269I, T1270I, T1301I, T949I, T1114I, T1137I, T1161I, T1175I, T1183I, T1184I, T1213I, T1214I, T1215I, T1255I, T1279I, T1330I, T1104I, T1138I, T1152I, T1162I, T1177I, T1180I, T1188I, T1192I, T1198I, T1261I, T1268I, T1333I, T910I, T974I
- Other names
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- Canonical SPDI
- NC_000002.12:101888861: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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| MAP4K4 | - | - |
GRCh38 GRCh37 |
133 | 160 | |
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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Mar 12, 2024 | RCV004408494.1 |
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
(Mar 12, 2024)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004900378.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.3665C>T (p.T1222I) alteration is located in exon 30 (coding exon 30) of the MAP4K4 gene. This alteration results from a C to T substitution … (more)
The c.3665C>T (p.T1222I) alteration is located in exon 30 (coding exon 30) of the MAP4K4 gene. This alteration results from a C to T substitution at nucleotide position 3665, causing the threonine (T) at amino acid position 1222 to be replaced by an isoleucine (I). 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.3665C>T (p.T1222I) alteration is located in exon 30 (coding exon 30) of the MAP4K4 gene. This alteration results from a C to T substitution at nucleotide position 3665, causing the threonine (T) at amino acid position 1222 to be replaced by an isoleucine (I). 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 May 08, 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.