The c.1829T>G (p.L610R) alteration is located in exon 17 (coding exon 17) of the MAP4K4 gene. This alteration results from a T to G substitution at nucleotide position 1829, causing the leucine (L) at amino acid position 610 to be replaced by an arginine (R). 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.2153T>G (p.Leu718Arg)
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)
Help
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.2153T>G (p.Leu718Arg)
Variation ID: 3293131 Accession: VCV003293131.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2q11.2 2: 101864985 (GRCh38) [ NCBI UCSC ] 2: 102481447 (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 Aug 11, 2024 Aug 11, 2024 Mar 20, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001395002.1:c.2153T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001381931.1:p.Leu718Arg missense NM_001242559.2:c.1922T>G NP_001229488.1:p.Leu641Arg missense NM_001242560.2:c.1898T>G NP_001229489.1:p.Leu633Arg missense NM_001384476.1:c.1991T>G NP_001371405.1:p.Leu664Arg missense NM_001384477.1:c.1985T>G NP_001371406.1:p.Leu662Arg missense NM_001384478.1:c.1667T>G NP_001371407.1:p.Leu556Arg missense NM_001384481.1:c.1922T>G NP_001371410.1:p.Leu641Arg missense NM_001384482.1:c.1667T>G NP_001371411.1:p.Leu556Arg missense NM_001384483.1:c.1760T>G NP_001371412.1:p.Leu587Arg missense NM_001384484.1:c.1991T>G NP_001371413.1:p.Leu664Arg missense NM_001384485.1:c.1991T>G NP_001371414.1:p.Leu664Arg missense NM_001384486.1:c.1922T>G NP_001371415.1:p.Leu641Arg missense NM_001384487.1:c.1898T>G NP_001371416.1:p.Leu633Arg missense NM_001384488.1:c.1922T>G NP_001371417.1:p.Leu641Arg missense NM_001384490.1:c.1760T>G NP_001371419.1:p.Leu587Arg missense NM_001384491.1:c.1898T>G NP_001371420.1:p.Leu633Arg missense NM_001384492.1:c.2060T>G NP_001371421.1:p.Leu687Arg missense NM_001384493.1:c.1991T>G NP_001371422.1:p.Leu664Arg missense NM_001384494.1:c.1760T>G NP_001371423.1:p.Leu587Arg missense NM_001384495.1:c.1667T>G NP_001371424.1:p.Leu556Arg missense NM_001384496.1:c.1760T>G NP_001371425.1:p.Leu587Arg missense NM_001384497.1:c.2153T>G NP_001371426.1:p.Leu718Arg missense NM_001384506.1:c.2153T>G NP_001371435.1:p.Leu718Arg missense NM_001384507.1:c.1922T>G NP_001371436.1:p.Leu641Arg missense NM_001384508.1:c.1985T>G NP_001371437.1:p.Leu662Arg missense NM_001384509.1:c.1898T>G NP_001371438.1:p.Leu633Arg missense NM_001384520.1:c.2060T>G NP_001371449.1:p.Leu687Arg missense NM_001384543.1:c.2060T>G NP_001371472.1:p.Leu687Arg missense NM_001384548.1:c.1904T>G NP_001371477.1:p.Leu635Arg missense NM_001384549.1:c.1640T>G NP_001371478.1:p.Leu547Arg missense NM_001384550.1:c.1877T>G NP_001371479.1:p.Leu626Arg missense NM_001384551.1:c.1802T>G NP_001371480.1:p.Leu601Arg missense NM_001384552.1:c.1964T>G NP_001371481.1:p.Leu655Arg missense NM_001384553.1:c.1958T>G NP_001371482.1:p.Leu653Arg missense NM_001384554.1:c.1871T>G NP_001371483.1:p.Leu624Arg missense NM_001384555.1:c.1964T>G NP_001371484.1:p.Leu655Arg missense NM_001384556.1:c.1958T>G NP_001371485.1:p.Leu653Arg missense NM_001384557.1:c.1802T>G NP_001371486.1:p.Leu601Arg missense NM_001384558.1:c.1871T>G NP_001371487.1:p.Leu624Arg missense NM_001384559.1:c.1640T>G NP_001371488.1:p.Leu547Arg missense NM_001384560.1:c.1733T>G NP_001371489.1:p.Leu578Arg missense NM_001384561.1:c.1640T>G NP_001371490.1:p.Leu547Arg missense NM_001384562.1:c.1958T>G NP_001371491.1:p.Leu653Arg missense NM_001384563.1:c.1958T>G NP_001371492.1:p.Leu653Arg missense NM_001384564.1:c.2033T>G NP_001371493.1:p.Leu678Arg missense NM_001384567.1:c.1871T>G NP_001371496.1:p.Leu624Arg missense NM_001384572.1:c.1964T>G NP_001371501.1:p.Leu655Arg missense NM_001384579.1:c.1895T>G NP_001371508.1:p.Leu632Arg missense NM_004834.5:c.1667T>G NP_004825.3:p.Leu556Arg missense NM_145686.4:c.1829T>G NP_663719.2:p.Leu610Arg missense NM_145687.4:c.1829T>G NP_663720.1:p.Leu610Arg missense NR_169279.1:n.2286T>G non-coding transcript variant NR_169280.1:n.2193T>G non-coding transcript variant NR_169281.1:n.2193T>G non-coding transcript variant NR_169282.1:n.1746T>G non-coding transcript variant NC_000002.12:g.101864985T>G NC_000002.11:g.102481447T>G - Protein change
- L601R, L633R, L547R, L624R, L632R, L641R, L655R, L687R, L578R, L587R, L626R, L635R, L662R, L718R, L556R, L610R, L653R, L664R, L678R
- Other names
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- Canonical SPDI
- NC_000002.12:101864984:T: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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| 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 20, 2024 | RCV004642925.1 |
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 20, 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: SCV005137906.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
The c.1829T>G (p.L610R) alteration is located in exon 17 (coding exon 17) of the MAP4K4 gene. This alteration results from a T to G substitution … (more)
The c.1829T>G (p.L610R) alteration is located in exon 17 (coding exon 17) of the MAP4K4 gene. This alteration results from a T to G substitution at nucleotide position 1829, causing the leucine (L) at amino acid position 610 to be replaced by an arginine (R). 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.1829T>G (p.L610R) alteration is located in exon 17 (coding exon 17) of the MAP4K4 gene. This alteration results from a T to G substitution at nucleotide position 1829, causing the leucine (L) at amino acid position 610 to be replaced by an arginine (R). 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 Aug 11, 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.