ClinVar Genomic variation as it relates to human health
NM_001395002.1(MAP4K4):c.3049G>A (p.Gly1017Arg)
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_001395002.1(MAP4K4):c.3049G>A (p.Gly1017Arg)
Variation ID: 3293128 Accession: VCV003293128.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2q11.2 2: 101873743 (GRCh38) [ NCBI UCSC ] 2: 102490205 (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 May 12, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001395002.1:c.3049G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001381931.1:p.Gly1017Arg missense NM_001242559.2:c.2614G>A NP_001229488.1:p.Gly872Arg missense NM_001242560.2:c.2602G>A NP_001229489.1:p.Gly868Arg missense NM_001384476.1:c.2692G>A NP_001371405.1:p.Gly898Arg missense NM_001384477.1:c.2881G>A NP_001371406.1:p.Gly961Arg missense NM_001384478.1:c.2371G>A NP_001371407.1:p.Gly791Arg missense NM_001384481.1:c.2809G>A NP_001371410.1:p.Gly937Arg missense NM_001384482.1:c.2362G>A NP_001371411.1:p.Gly788Arg missense NM_001384483.1:c.2644G>A NP_001371412.1:p.Gly882Arg missense NM_001384484.1:c.2695G>A NP_001371413.1:p.Gly899Arg missense NM_001384485.1:c.2695G>A NP_001371414.1:p.Gly899Arg missense NM_001384486.1:c.2818G>A NP_001371415.1:p.Gly940Arg missense NM_001384487.1:c.2785G>A NP_001371416.1:p.Gly929Arg missense NM_001384488.1:c.2815G>A NP_001371417.1:p.Gly939Arg missense NM_001384490.1:c.2464G>A NP_001371419.1:p.Gly822Arg missense NM_001384491.1:c.2599G>A NP_001371420.1:p.Gly867Arg missense NM_001384492.1:c.2953G>A NP_001371421.1:p.Gly985Arg missense NM_001384493.1:c.2887G>A NP_001371422.1:p.Gly963Arg missense NM_001384494.1:c.2461G>A NP_001371423.1:p.Gly821Arg missense NM_001384495.1:c.2563G>A NP_001371424.1:p.Gly855Arg missense NM_001384496.1:c.2647G>A NP_001371425.1:p.Gly883Arg missense NM_001384497.1:c.3040G>A NP_001371426.1:p.Gly1014Arg missense NM_001384506.1:c.2857G>A NP_001371435.1:p.Gly953Arg missense NM_001384507.1:c.2626G>A NP_001371436.1:p.Gly876Arg missense NM_001384508.1:c.2689G>A NP_001371437.1:p.Gly897Arg missense NM_001384509.1:c.2782G>A NP_001371438.1:p.Gly928Arg missense NM_001384520.1:c.2755G>A NP_001371449.1:p.Gly919Arg missense NM_001384543.1:c.2764G>A NP_001371472.1:p.Gly922Arg missense NM_001384548.1:c.2800G>A NP_001371477.1:p.Gly934Arg missense NM_001384549.1:c.2536G>A NP_001371478.1:p.Gly846Arg missense NM_001384550.1:c.2581G>A NP_001371479.1:p.Gly861Arg missense NM_001384551.1:c.2506G>A NP_001371480.1:p.Gly836Arg missense NM_001384552.1:c.2665G>A NP_001371481.1:p.Gly889Arg missense NM_001384553.1:c.2854G>A NP_001371482.1:p.Gly952Arg missense NM_001384554.1:c.2566G>A NP_001371483.1:p.Gly856Arg missense NM_001384555.1:c.2860G>A NP_001371484.1:p.Gly954Arg missense NM_001384556.1:c.2659G>A NP_001371485.1:p.Gly887Arg missense NM_001384557.1:c.2497G>A NP_001371486.1:p.Gly833Arg missense NM_001384558.1:c.2575G>A NP_001371487.1:p.Gly859Arg missense NM_001384559.1:c.2533G>A NP_001371488.1:p.Gly845Arg missense NM_001384560.1:c.2428G>A NP_001371489.1:p.Gly810Arg missense NM_001384561.1:c.2344G>A NP_001371490.1:p.Gly782Arg missense NM_001384562.1:c.2662G>A NP_001371491.1:p.Gly888Arg missense NM_001384563.1:c.2851G>A NP_001371492.1:p.Gly951Arg missense NM_001384564.1:c.2920G>A NP_001371493.1:p.Gly974Arg missense NM_001384567.1:c.2767G>A NP_001371496.1:p.Gly923Arg missense NM_001384572.1:c.2668G>A NP_001371501.1:p.Gly890Arg missense NM_001384579.1:c.2599G>A NP_001371508.1:p.Gly867Arg missense NM_004834.5:c.2368G>A NP_004825.3:p.Gly790Arg missense NM_145686.4:c.2716G>A NP_663719.2:p.Gly906Arg missense NM_145687.4:c.2533G>A NP_663720.1:p.Gly845Arg missense NR_169279.1:n.2990G>A non-coding transcript variant NR_169280.1:n.3089G>A non-coding transcript variant NR_169281.1:n.2897G>A non-coding transcript variant NR_169282.1:n.2450G>A non-coding transcript variant NC_000002.12:g.101873743G>A NC_000002.11:g.102490205G>A - Protein change
- G790R, G810R, G833R, G836R, G856R, G861R, G888R, G890R, G897R, G899R, G922R, G923R, G934R, G940R, G951R, G952R, G963R, G1014R, G821R, G867R, G876R, G887R, G898R, G906R, G954R, G974R, G985R, G788R, G791R, G846R, G855R, G889R, G928R, G937R, G1017R, G782R, G822R, G845R, G859R, G868R, G872R, G882R, G883R, G919R, G929R, G939R, G953R, G961R
- Other names
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- Canonical SPDI
- NC_000002.12:101873742: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
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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
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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 |
114 | 141 |
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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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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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May 12, 2024 | RCV004636514.1 |
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
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
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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
(May 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: SCV005137903.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
The c.2716G>A (p.G906R) alteration is located in exon 23 (coding exon 23) of the MAP4K4 gene. This alteration results from a G to A substitution … (more)
The c.2716G>A (p.G906R) alteration is located in exon 23 (coding exon 23) of the MAP4K4 gene. This alteration results from a G to A substitution at nucleotide position 2716, causing the glycine (G) at amino acid position 906 to be replaced by an arginine (R). 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 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.