Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)
ClinVar Genomic variation as it relates to human health
NM_001395002.1(MAP4K4):c.571A>C (p.Thr191Pro)
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
-
NM_001395002.1(MAP4K4):c.571A>C (p.Thr191Pro)
Variation ID: 2663097 Accession: VCV002663097.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2q11.2 2: 101831783 (GRCh38) [ NCBI UCSC ] 2: 102448245 (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 Nov 25, 2023 Nov 25, 2023 Mar 30, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001395002.1:c.571A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001381931.1:p.Thr191Pro missense NM_001242559.2:c.571A>C NP_001229488.1:p.Thr191Pro missense NM_001242560.2:c.571A>C NP_001229489.1:p.Thr191Pro missense NM_001384476.1:c.571A>C NP_001371405.1:p.Thr191Pro missense NM_001384477.1:c.571A>C NP_001371406.1:p.Thr191Pro missense NM_001384478.1:c.571A>C NP_001371407.1:p.Thr191Pro missense NM_001384480.1:c.571A>C NP_001371409.1:p.Thr191Pro missense NM_001384481.1:c.571A>C NP_001371410.1:p.Thr191Pro missense NM_001384482.1:c.571A>C NP_001371411.1:p.Thr191Pro missense NM_001384483.1:c.571A>C NP_001371412.1:p.Thr191Pro missense NM_001384484.1:c.571A>C NP_001371413.1:p.Thr191Pro missense NM_001384485.1:c.571A>C NP_001371414.1:p.Thr191Pro missense NM_001384486.1:c.571A>C NP_001371415.1:p.Thr191Pro missense NM_001384487.1:c.571A>C NP_001371416.1:p.Thr191Pro missense NM_001384488.1:c.571A>C NP_001371417.1:p.Thr191Pro missense NM_001384489.1:c.-173A>C NM_001384490.1:c.571A>C NP_001371419.1:p.Thr191Pro missense NM_001384491.1:c.571A>C NP_001371420.1:p.Thr191Pro missense NM_001384492.1:c.571A>C NP_001371421.1:p.Thr191Pro missense NM_001384493.1:c.571A>C NP_001371422.1:p.Thr191Pro missense NM_001384494.1:c.571A>C NP_001371423.1:p.Thr191Pro missense NM_001384495.1:c.571A>C NP_001371424.1:p.Thr191Pro missense NM_001384496.1:c.571A>C NP_001371425.1:p.Thr191Pro missense NM_001384497.1:c.571A>C NP_001371426.1:p.Thr191Pro missense NM_001384505.1:c.-173A>C NM_001384506.1:c.571A>C NP_001371435.1:p.Thr191Pro missense NM_001384507.1:c.571A>C NP_001371436.1:p.Thr191Pro missense NM_001384508.1:c.571A>C NP_001371437.1:p.Thr191Pro missense NM_001384509.1:c.571A>C NP_001371438.1:p.Thr191Pro missense NM_001384520.1:c.571A>C NP_001371449.1:p.Thr191Pro missense NM_001384543.1:c.571A>C NP_001371472.1:p.Thr191Pro missense NM_001384544.1:c.-173A>C NM_001384545.1:c.-173A>C NM_001384548.1:c.571A>C NP_001371477.1:p.Thr191Pro missense NM_001384549.1:c.544A>C NP_001371478.1:p.Thr182Pro missense NM_001384550.1:c.544A>C NP_001371479.1:p.Thr182Pro missense NM_001384551.1:c.544A>C NP_001371480.1:p.Thr182Pro missense NM_001384552.1:c.544A>C NP_001371481.1:p.Thr182Pro missense NM_001384553.1:c.544A>C NP_001371482.1:p.Thr182Pro missense NM_001384554.1:c.544A>C NP_001371483.1:p.Thr182Pro missense NM_001384555.1:c.544A>C NP_001371484.1:p.Thr182Pro missense NM_001384556.1:c.544A>C NP_001371485.1:p.Thr182Pro missense NM_001384557.1:c.544A>C NP_001371486.1:p.Thr182Pro missense NM_001384558.1:c.544A>C NP_001371487.1:p.Thr182Pro missense NM_001384559.1:c.544A>C NP_001371488.1:p.Thr182Pro missense NM_001384560.1:c.544A>C NP_001371489.1:p.Thr182Pro missense NM_001384561.1:c.544A>C NP_001371490.1:p.Thr182Pro missense NM_001384562.1:c.544A>C NP_001371491.1:p.Thr182Pro missense NM_001384563.1:c.544A>C NP_001371492.1:p.Thr182Pro missense NM_001384564.1:c.544A>C NP_001371493.1:p.Thr182Pro missense NM_001384567.1:c.544A>C NP_001371496.1:p.Thr182Pro missense NM_001384572.1:c.544A>C NP_001371501.1:p.Thr182Pro missense NM_001384579.1:c.544A>C NP_001371508.1:p.Thr182Pro missense NM_004834.5:c.571A>C NP_004825.3:p.Thr191Pro missense NM_145686.4:c.571A>C NP_663719.2:p.Thr191Pro missense NM_145687.4:c.571A>C NP_663720.1:p.Thr191Pro missense NR_169279.1:n.945A>C non-coding transcript variant NR_169280.1:n.945A>C non-coding transcript variant NR_169281.1:n.945A>C non-coding transcript variant NR_169282.1:n.945A>C non-coding transcript variant NC_000002.12:g.101831783A>C NC_000002.11:g.102448245A>C - Protein change
- T182P, T191P
- Other names
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- Canonical SPDI
- NC_000002.12:101831782:A:C
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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. |
|||
| 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
|
Mar 30, 2023 | RCV003442285.1 |
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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|---|---|---|---|---|---|
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Uncertain significance
(Mar 30, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV004169759.1
First in ClinVar: Nov 25, 2023 Last updated: Nov 25, 2023 |
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; … (more)
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015) (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:
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)
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 Nov 25, 2023
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.