The c.514G>T (p.A172S) alteration is located in exon 8 (coding exon 8) of the RAP1GAP gene. This alteration results from a G to T substitution at nucleotide position 514, causing the alanine (A) at amino acid position 172 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_002885.4(RAP1GAP):c.322G>T (p.Ala108Ser)
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_002885.4(RAP1GAP):c.322G>T (p.Ala108Ser)
Variation ID: 2524702 Accession: VCV002524702.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1p36.12 1: 21614059 (GRCh38) [ NCBI UCSC ] 1: 21940552 (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 Jul 8, 2023 May 1, 2024 Apr 10, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_002885.4:c.322G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_002876.2:p.Ala108Ser missense NM_001145657.3:c.322G>T NP_001139129.1:p.Ala108Ser missense NM_001145658.3:c.514G>T NP_001139130.1:p.Ala172Ser missense NM_001330383.3:c.322G>T NP_001317312.1:p.Ala108Ser missense NM_001350524.2:c.322G>T NP_001337453.1:p.Ala108Ser missense NM_001350525.2:c.322G>T NP_001337454.1:p.Ala108Ser missense NM_001350526.2:c.322G>T NP_001337455.1:p.Ala108Ser missense NM_001350527.2:c.322G>T NP_001337456.1:p.Ala108Ser missense NM_001350528.2:c.322G>T NP_001337457.1:p.Ala108Ser missense NM_001388200.1:c.322G>T NP_001375129.1:p.Ala108Ser missense NM_001388201.1:c.322G>T NP_001375130.1:p.Ala108Ser missense NM_001388202.1:c.322G>T NP_001375131.1:p.Ala108Ser missense NM_001388203.1:c.322G>T NP_001375132.1:p.Ala108Ser missense NM_001388204.1:c.322G>T NP_001375133.1:p.Ala108Ser missense NM_001388205.1:c.322G>T NP_001375134.1:p.Ala108Ser missense NM_001388206.1:c.322G>T NP_001375135.1:p.Ala108Ser missense NM_001388207.1:c.322G>T NP_001375136.1:p.Ala108Ser missense NM_001388208.1:c.322G>T NP_001375137.1:p.Ala108Ser missense NM_001388209.1:c.322G>T NP_001375138.1:p.Ala108Ser missense NM_001388210.1:c.322G>T NP_001375139.1:p.Ala108Ser missense NM_001388211.1:c.322G>T NP_001375140.1:p.Ala108Ser missense NM_001388212.1:c.322G>T NP_001375141.1:p.Ala108Ser missense NM_001388213.1:c.322G>T NP_001375142.1:p.Ala108Ser missense NM_001388214.1:c.322G>T NP_001375143.1:p.Ala108Ser missense NM_001388215.1:c.322G>T NP_001375144.1:p.Ala108Ser missense NM_001388216.1:c.322G>T NP_001375145.1:p.Ala108Ser missense NM_001388217.1:c.322G>T NP_001375146.1:p.Ala108Ser missense NM_001388218.1:c.322G>T NP_001375147.1:p.Ala108Ser missense NM_001388219.1:c.322G>T NP_001375148.1:p.Ala108Ser missense NM_001388220.1:c.322G>T NP_001375149.1:p.Ala108Ser missense NM_001388221.1:c.322G>T NP_001375150.1:p.Ala108Ser missense NM_001388222.1:c.322G>T NP_001375151.1:p.Ala108Ser missense NM_001388223.1:c.322G>T NP_001375152.1:p.Ala108Ser missense NM_001388224.1:c.322G>T NP_001375153.1:p.Ala108Ser missense NM_001388225.1:c.322G>T NP_001375154.1:p.Ala108Ser missense NM_001388226.1:c.322G>T NP_001375155.1:p.Ala108Ser missense NM_001388227.1:c.322G>T NP_001375156.1:p.Ala108Ser missense NM_001388228.1:c.322G>T NP_001375157.1:p.Ala108Ser missense NM_001388229.1:c.322G>T NP_001375158.1:p.Ala108Ser missense NM_001388230.1:c.322G>T NP_001375159.1:p.Ala108Ser missense NM_001388231.1:c.295G>T NP_001375160.1:p.Ala99Ser missense NM_001388233.1:c.283G>T NP_001375162.1:p.Ala95Ser missense NM_001388234.1:c.322G>T NP_001375163.1:p.Ala108Ser missense NM_001388235.1:c.322G>T NP_001375164.1:p.Ala108Ser missense NM_001388236.1:c.322G>T NP_001375165.1:p.Ala108Ser missense NM_001388237.1:c.322G>T NP_001375166.1:p.Ala108Ser missense NM_001388238.1:c.322G>T NP_001375167.1:p.Ala108Ser missense NM_001388239.1:c.322G>T NP_001375168.1:p.Ala108Ser missense NM_001388240.1:c.322G>T NP_001375169.1:p.Ala108Ser missense NM_001388241.1:c.322G>T NP_001375170.1:p.Ala108Ser missense NM_001388242.1:c.322G>T NP_001375171.1:p.Ala108Ser missense NM_001388243.1:c.322G>T NP_001375172.1:p.Ala108Ser missense NM_001388244.1:c.322G>T NP_001375173.1:p.Ala108Ser missense NM_001388245.1:c.322G>T NP_001375174.1:p.Ala108Ser missense NM_001388246.1:c.322G>T NP_001375175.1:p.Ala108Ser missense NM_001388247.1:c.322G>T NP_001375176.1:p.Ala108Ser missense NM_001388248.1:c.322G>T NP_001375177.1:p.Ala108Ser missense NM_001388249.1:c.322G>T NP_001375178.1:p.Ala108Ser missense NM_001388250.1:c.322G>T NP_001375179.1:p.Ala108Ser missense NM_001388251.1:c.322G>T NP_001375180.1:p.Ala108Ser missense NM_001388252.1:c.322G>T NP_001375181.1:p.Ala108Ser missense NM_001388253.1:c.322G>T NP_001375182.1:p.Ala108Ser missense NM_001388254.1:c.322G>T NP_001375183.1:p.Ala108Ser missense NM_001388255.1:c.322G>T NP_001375184.1:p.Ala108Ser missense NM_001388256.1:c.322G>T NP_001375185.1:p.Ala108Ser missense NM_001388258.1:c.322G>T NP_001375187.1:p.Ala108Ser missense NM_001388259.1:c.322G>T NP_001375188.1:p.Ala108Ser missense NM_001388261.1:c.322G>T NP_001375190.1:p.Ala108Ser missense NM_001388263.1:c.322G>T NP_001375192.1:p.Ala108Ser missense NM_001388264.1:c.322G>T NP_001375193.1:p.Ala108Ser missense NM_001388266.1:c.322G>T NP_001375195.1:p.Ala108Ser missense NM_001388267.1:c.322G>T NP_001375196.1:p.Ala108Ser missense NM_001388269.1:c.322G>T NP_001375198.1:p.Ala108Ser missense NM_001388270.1:c.322G>T NP_001375199.1:p.Ala108Ser missense NM_001388273.1:c.322G>T NP_001375202.1:p.Ala108Ser missense NM_001388276.1:c.-144G>T 5 prime UTR NM_001388279.1:c.-144G>T 5 prime UTR NM_001388280.1:c.-144G>T 5 prime UTR NM_001388281.1:c.-144G>T 5 prime UTR NM_001388282.1:c.205G>T NP_001375211.1:p.Ala69Ser missense NM_001388283.1:c.322G>T NP_001375212.1:p.Ala108Ser missense NM_001388284.1:c.322G>T NP_001375213.1:p.Ala108Ser missense NM_001388285.1:c.322G>T NP_001375214.1:p.Ala108Ser missense NM_001388286.1:c.514G>T NP_001375215.1:p.Ala172Ser missense NM_001388287.1:c.514G>T NP_001375216.1:p.Ala172Ser missense NM_001388288.1:c.514G>T NP_001375217.1:p.Ala172Ser missense NM_001388289.1:c.514G>T NP_001375218.1:p.Ala172Ser missense NM_001388290.1:c.514G>T NP_001375219.1:p.Ala172Ser missense NM_001388291.1:c.514G>T NP_001375220.1:p.Ala172Ser missense NM_001388292.1:c.514G>T NP_001375221.1:p.Ala172Ser missense NM_001388293.1:c.514G>T NP_001375222.1:p.Ala172Ser missense NM_001388294.1:c.514G>T NP_001375223.1:p.Ala172Ser missense NM_001388295.1:c.514G>T NP_001375224.1:p.Ala172Ser missense NM_001388296.1:c.514G>T NP_001375225.1:p.Ala172Ser missense NR_170899.1:n.574G>T non-coding transcript variant NR_170900.1:n.574G>T non-coding transcript variant NR_170901.1:n.574G>T non-coding transcript variant NR_170902.1:n.574G>T non-coding transcript variant NR_170903.1:n.681G>T non-coding transcript variant NR_170904.1:n.574G>T non-coding transcript variant NR_170905.1:n.764G>T non-coding transcript variant NR_170906.1:n.681G>T non-coding transcript variant NR_170907.1:n.990G>T non-coding transcript variant NR_170908.1:n.681G>T non-coding transcript variant NR_170909.1:n.538G>T non-coding transcript variant NR_170910.1:n.764G>T non-coding transcript variant NR_170911.1:n.538G>T non-coding transcript variant NR_170912.1:n.764G>T non-coding transcript variant NR_170913.1:n.657G>T non-coding transcript variant NR_170914.1:n.681G>T non-coding transcript variant NR_170915.1:n.538G>T non-coding transcript variant NR_170916.1:n.578G>T non-coding transcript variant NR_170920.1:n.681G>T non-coding transcript variant NR_170921.1:n.574G>T non-coding transcript variant NR_170923.1:n.590G>T non-coding transcript variant NR_170924.1:n.590G>T non-coding transcript variant NR_170925.1:n.1532G>T non-coding transcript variant NR_170926.1:n.590G>T non-coding transcript variant NR_170927.1:n.1206G>T non-coding transcript variant NR_170928.1:n.1222G>T non-coding transcript variant NR_170929.1:n.990G>T non-coding transcript variant NC_000001.11:g.21614059C>A NC_000001.10:g.21940552C>A NG_029807.1:g.60305G>T - Protein change
- A99S, A172S, A108S, A69S, A95S
- Other names
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- Canonical SPDI
- NC_000001.11:21614058:C: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.
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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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| RAP1GAP | - | - |
GRCh38 GRCh37 |
37 | 53 | |
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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Apr 10, 2023 | RCV004304359.1 |
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
(Apr 10, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003947811.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The c.514G>T (p.A172S) alteration is located in exon 8 (coding exon 8) of the RAP1GAP gene. This alteration results from a G to T substitution … (more)
The c.514G>T (p.A172S) alteration is located in exon 8 (coding exon 8) of the RAP1GAP gene. This alteration results from a G to T substitution at nucleotide position 514, causing the alanine (A) at amino acid position 172 to be replaced by a serine (S). 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.514G>T (p.A172S) alteration is located in exon 8 (coding exon 8) of the RAP1GAP gene. This alteration results from a G to T substitution at nucleotide position 514, causing the alanine (A) at amino acid position 172 to be replaced by a serine (S). 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 Nov 25, 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.