ClinVar Genomic variation as it relates to human health
NM_001395002.1(MAP4K4):c.1694G>A (p.Arg565Gln)
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.1694G>A (p.Arg565Gln)
Variation ID: 545107 Accession: VCV000545107.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2q11.2 2: 101859854 (GRCh38) [ NCBI UCSC ] 2: 102476316 (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 Jun 4, 2018 Jun 4, 2018 Feb 14, 2018 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001395002.1:c.1694G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001381931.1:p.Arg565Gln missense NM_001242559.2:c.1694G>A NP_001229488.1:p.Arg565Gln missense NM_001242560.2:c.1601G>A NP_001229489.1:p.Arg534Gln missense NM_001384476.1:c.1694G>A NP_001371405.1:p.Arg565Gln missense NM_001384477.1:c.1694G>A NP_001371406.1:p.Arg565Gln missense NM_001384478.1:c.1601G>A NP_001371407.1:p.Arg534Gln missense NM_001384481.1:c.1694G>A NP_001371410.1:p.Arg565Gln missense NM_001384482.1:c.1601G>A NP_001371411.1:p.Arg534Gln missense NM_001384483.1:c.1694G>A NP_001371412.1:p.Arg565Gln missense NM_001384484.1:c.1694G>A NP_001371413.1:p.Arg565Gln missense NM_001384485.1:c.1694G>A NP_001371414.1:p.Arg565Gln missense NM_001384486.1:c.1694G>A NP_001371415.1:p.Arg565Gln missense NM_001384487.1:c.1601G>A NP_001371416.1:p.Arg534Gln missense NM_001384488.1:c.1694G>A NP_001371417.1:p.Arg565Gln missense NM_001384490.1:c.1694G>A NP_001371419.1:p.Arg565Gln missense NM_001384491.1:c.1601G>A NP_001371420.1:p.Arg534Gln missense NM_001384492.1:c.1601G>A NP_001371421.1:p.Arg534Gln missense NM_001384493.1:c.1694G>A NP_001371422.1:p.Arg565Gln missense NM_001384494.1:c.1694G>A NP_001371423.1:p.Arg565Gln missense NM_001384495.1:c.1601G>A NP_001371424.1:p.Arg534Gln missense NM_001384496.1:c.1694G>A NP_001371425.1:p.Arg565Gln missense NM_001384497.1:c.1694G>A NP_001371426.1:p.Arg565Gln missense NM_001384506.1:c.1694G>A NP_001371435.1:p.Arg565Gln missense NM_001384507.1:c.1694G>A NP_001371436.1:p.Arg565Gln missense NM_001384508.1:c.1694G>A NP_001371437.1:p.Arg565Gln missense NM_001384509.1:c.1601G>A NP_001371438.1:p.Arg534Gln missense NM_001384520.1:c.1601G>A NP_001371449.1:p.Arg534Gln missense NM_001384543.1:c.1601G>A NP_001371472.1:p.Arg534Gln missense NM_001384548.1:c.1607G>A NP_001371477.1:p.Arg536Gln missense NM_001384549.1:c.1574G>A NP_001371478.1:p.Arg525Gln missense NM_001384550.1:c.1580G>A NP_001371479.1:p.Arg527Gln missense NM_001384551.1:c.1574G>A NP_001371480.1:p.Arg525Gln missense NM_001384552.1:c.1667G>A NP_001371481.1:p.Arg556Gln missense NM_001384553.1:c.1667G>A NP_001371482.1:p.Arg556Gln missense NM_001384554.1:c.1574G>A NP_001371483.1:p.Arg525Gln missense NM_001384555.1:c.1667G>A NP_001371484.1:p.Arg556Gln missense NM_001384556.1:c.1667G>A NP_001371485.1:p.Arg556Gln missense NM_001384557.1:c.1574G>A NP_001371486.1:p.Arg525Gln missense NM_001384558.1:c.1574G>A NP_001371487.1:p.Arg525Gln missense NM_001384559.1:c.1574G>A NP_001371488.1:p.Arg525Gln missense NM_001384560.1:c.1667G>A NP_001371489.1:p.Arg556Gln missense NM_001384561.1:c.1574G>A NP_001371490.1:p.Arg525Gln missense NM_001384562.1:c.1667G>A NP_001371491.1:p.Arg556Gln missense NM_001384563.1:c.1667G>A NP_001371492.1:p.Arg556Gln missense NM_001384564.1:c.1574G>A NP_001371493.1:p.Arg525Gln missense NM_001384567.1:c.1574G>A NP_001371496.1:p.Arg525Gln missense NM_001384572.1:c.1667G>A NP_001371501.1:p.Arg556Gln missense NM_001384579.1:c.1667G>A NP_001371508.1:p.Arg556Gln missense NM_004834.5:c.1601G>A NP_004825.3:p.Arg534Gln missense NM_145686.4:c.1601G>A NP_663719.2:p.Arg534Gln missense NM_145687.4:c.1601G>A NP_663720.1:p.Arg534Gln missense NR_169279.1:n.1989G>A non-coding transcript variant NR_169280.1:n.1896G>A non-coding transcript variant NR_169281.1:n.1896G>A non-coding transcript variant NC_000002.12:g.101859854G>A NC_000002.11:g.102476316G>A - Protein change
- R565Q, R534Q, R525Q, R527Q, R536Q, R556Q
- Other names
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- Canonical SPDI
- NC_000002.12:101859853: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.
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00000
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
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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 |
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
Help
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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Likely pathogenic (1) |
criteria provided, single submitter
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Feb 14, 2018 | RCV000656330.2 |
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
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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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Likely pathogenic
(Feb 14, 2018)
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criteria provided, single submitter
Method: clinical testing
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Brain arteriovenous malformation
Affected status: yes
Allele origin:
germline
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Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
Study: DISCO
Accession: SCV000747775.1 First in ClinVar: Jun 04, 2018 Last updated: Jun 04, 2018 |
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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 rs781410462 ...
HelpRecord last updated May 24, 2022
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.