The c.3727C>T (p.R1243C) 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 3727, causing the arginine (R) at amino acid position 1243 to be replaced by a cysteine (C). 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.4060C>T (p.Arg1354Cys)
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.4060C>T (p.Arg1354Cys)
Variation ID: 2232370 Accession: VCV002232370.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2q11.2 2: 101888924 (GRCh38) [ NCBI UCSC ] 2: 102505386 (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 Feb 8, 2023 May 1, 2024 Jun 11, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001395002.1:c.4060C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001381931.1:p.Arg1354Cys missense NM_001242559.2:c.3625C>T NP_001229488.1:p.Arg1209Cys missense NM_001242560.2:c.3613C>T NP_001229489.1:p.Arg1205Cys missense NM_001384476.1:c.3703C>T NP_001371405.1:p.Arg1235Cys missense NM_001384477.1:c.3892C>T NP_001371406.1:p.Arg1298Cys missense NM_001384478.1:c.3382C>T NP_001371407.1:p.Arg1128Cys missense NM_001384480.1:c.3574C>T NP_001371409.1:p.Arg1192Cys missense NM_001384481.1:c.3844C>T NP_001371410.1:p.Arg1282Cys missense NM_001384482.1:c.3373C>T NP_001371411.1:p.Arg1125Cys missense NM_001384483.1:c.3655C>T NP_001371412.1:p.Arg1219Cys missense NM_001384484.1:c.3706C>T NP_001371413.1:p.Arg1236Cys missense NM_001384485.1:c.3730C>T NP_001371414.1:p.Arg1244Cys missense NM_001384486.1:c.3829C>T NP_001371415.1:p.Arg1277Cys missense NM_001384487.1:c.3796C>T NP_001371416.1:p.Arg1266Cys missense NM_001384488.1:c.3826C>T NP_001371417.1:p.Arg1276Cys missense NM_001384489.1:c.2908C>T NP_001371418.1:p.Arg970Cys missense NM_001384490.1:c.3475C>T NP_001371419.1:p.Arg1159Cys missense NM_001384491.1:c.3610C>T NP_001371420.1:p.Arg1204Cys missense NM_001384492.1:c.3964C>T NP_001371421.1:p.Arg1322Cys missense NM_001384493.1:c.3898C>T NP_001371422.1:p.Arg1300Cys missense NM_001384494.1:c.3472C>T NP_001371423.1:p.Arg1158Cys missense NM_001384495.1:c.3574C>T NP_001371424.1:p.Arg1192Cys missense NM_001384496.1:c.3682C>T NP_001371425.1:p.Arg1228Cys missense NM_001384497.1:c.4051C>T NP_001371426.1:p.Arg1351Cys missense NM_001384505.1:c.2344C>T NP_001371434.1:p.Arg782Cys missense NM_001384506.1:c.3868C>T NP_001371435.1:p.Arg1290Cys missense NM_001384507.1:c.3637C>T NP_001371436.1:p.Arg1213Cys missense NM_001384508.1:c.3700C>T NP_001371437.1:p.Arg1234Cys missense NM_001384509.1:c.3793C>T NP_001371438.1:p.Arg1265Cys missense NM_001384520.1:c.3766C>T NP_001371449.1:p.Arg1256Cys missense NM_001384543.1:c.3775C>T NP_001371472.1:p.Arg1259Cys missense NM_001384544.1:c.2983C>T NP_001371473.1:p.Arg995Cys missense NM_001384545.1:c.2791C>T NP_001371474.1:p.Arg931Cys missense NM_001384548.1:c.3811C>T NP_001371477.1:p.Arg1271Cys missense NM_001384549.1:c.3547C>T NP_001371478.1:p.Arg1183Cys missense NM_001384550.1:c.3592C>T NP_001371479.1:p.Arg1198Cys missense NM_001384551.1:c.3517C>T NP_001371480.1:p.Arg1173Cys missense NM_001384552.1:c.3676C>T NP_001371481.1:p.Arg1226Cys missense NM_001384553.1:c.3865C>T NP_001371482.1:p.Arg1289Cys missense NM_001384554.1:c.3601C>T NP_001371483.1:p.Arg1201Cys missense NM_001384555.1:c.3871C>T NP_001371484.1:p.Arg1291Cys missense NM_001384556.1:c.3670C>T NP_001371485.1:p.Arg1224Cys missense NM_001384557.1:c.3508C>T NP_001371486.1:p.Arg1170Cys missense NM_001384558.1:c.3586C>T NP_001371487.1:p.Arg1196Cys missense NM_001384559.1:c.3544C>T NP_001371488.1:p.Arg1182Cys missense NM_001384560.1:c.3439C>T NP_001371489.1:p.Arg1147Cys missense NM_001384561.1:c.3355C>T NP_001371490.1:p.Arg1119Cys missense NM_001384562.1:c.3673C>T NP_001371491.1:p.Arg1225Cys missense NM_001384563.1:c.3862C>T NP_001371492.1:p.Arg1288Cys missense NM_001384564.1:c.3931C>T NP_001371493.1:p.Arg1311Cys missense NM_001384567.1:c.3778C>T NP_001371496.1:p.Arg1260Cys missense NM_001384572.1:c.3679C>T NP_001371501.1:p.Arg1227Cys missense NM_001384579.1:c.3610C>T NP_001371508.1:p.Arg1204Cys missense NM_004834.5:c.3403C>T NP_004825.3:p.Arg1135Cys missense NM_145686.4:c.3727C>T NP_663719.2:p.Arg1243Cys missense NM_145687.4:c.3544C>T NP_663720.1:p.Arg1182Cys missense NR_169279.1:n.4025C>T non-coding transcript variant NR_169280.1:n.4100C>T non-coding transcript variant NR_169281.1:n.3908C>T non-coding transcript variant NR_169282.1:n.3461C>T non-coding transcript variant NC_000002.12:g.101888924C>T NC_000002.11:g.102505386C>T - Protein change
- R1158C, R1170C, R1201C, R1219C, R1224C, R1234C, R1244C, R1256C, R1260C, R1265C, R1277C, R1298C, R1311C, R995C, R1125C, R1128C, R1182C, R1209C, R1225C, R1226C, R1259C, R1266C, R1276C, R1289C, R931C, R970C, R1135C, R1147C, R1159C, R1196C, R1198C, R1205C, R1213C, R1227C, R1243C, R1288C, R1290C, R1322C, R782C, R1119C, R1173C, R1183C, R1192C, R1204C, R1228C, R1235C, R1236C, R1271C, R1282C, R1291C, R1300C, R1351C, R1354C
- Other names
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- Canonical SPDI
- NC_000002.12:101888923: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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Jun 11, 2021 | RCV002728038.2 |
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
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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
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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
(Jun 11, 2021)
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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: SCV003557066.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.3727C>T (p.R1243C) 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.3727C>T (p.R1243C) 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 3727, causing the arginine (R) at amino acid position 1243 to be replaced by a cysteine (C). 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.3727C>T (p.R1243C) 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 3727, causing the arginine (R) at amino acid position 1243 to be replaced by a cysteine (C). 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 01, 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.