ClinVar Genomic variation as it relates to human health
NM_006839.3(IMMT):c.1163G>A (p.Ser388Asn)
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
-
NM_006839.3(IMMT):c.1163G>A (p.Ser388Asn)
Variation ID: 2533025 Accession: VCV002533025.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 2p11.2 2: 86153574 (GRCh38) [ NCBI UCSC ] 2: 86380697 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 5, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_006839.3:c.1163G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_006830.2:p.Ser388Asn missense NM_001100169.2:c.1160G>A NP_001093639.1:p.Ser387Asn missense NM_001100170.2:c.1130G>A NP_001093640.1:p.Ser377Asn missense NM_001400086.1:c.1157G>A NP_001387015.1:p.Ser386Asn missense NM_001400087.1:c.1157G>A NP_001387016.1:p.Ser386Asn missense NM_001400088.1:c.1157G>A NP_001387017.1:p.Ser386Asn missense NM_001400089.1:c.1154G>A NP_001387018.1:p.Ser385Asn missense NM_001400090.1:c.1151G>A NP_001387019.1:p.Ser384Asn missense NM_001400091.1:c.1163-2054G>A intron variant NM_001400100.1:c.1154G>A NP_001387029.1:p.Ser385Asn missense NM_001400101.1:c.1160-2054G>A intron variant NM_001400102.1:c.1127G>A NP_001387031.1:p.Ser376Asn missense NM_001400103.1:c.1127G>A NP_001387032.1:p.Ser376Asn missense NM_001400104.1:c.1124G>A NP_001387033.1:p.Ser375Asn missense NM_001400105.1:c.1124G>A NP_001387034.1:p.Ser375Asn missense NM_001400106.1:c.1124G>A NP_001387035.1:p.Ser375Asn missense NM_001400107.1:c.1124G>A NP_001387036.1:p.Ser375Asn missense NM_001400108.1:c.1121G>A NP_001387037.1:p.Ser374Asn missense NM_001400109.1:c.1121G>A NP_001387038.1:p.Ser374Asn missense NM_001400110.1:c.1130-2054G>A intron variant NM_001400111.1:c.1127-2054G>A intron variant NM_001400112.1:c.1106G>A NP_001387041.1:p.Ser369Asn missense NM_001400113.1:c.1067G>A NP_001387042.1:p.Ser356Asn missense NM_001400114.1:c.902G>A NP_001387043.1:p.Ser301Asn missense NM_001400115.1:c.899G>A NP_001387044.1:p.Ser300Asn missense NM_001400116.1:c.890G>A NP_001387045.1:p.Ser297Asn missense NM_001400117.1:c.869G>A NP_001387046.1:p.Ser290Asn missense NM_001400118.1:c.869G>A NP_001387047.1:p.Ser290Asn missense NM_001400119.1:c.866-2054G>A intron variant NM_001400120.1:c.1127G>A NP_001387049.1:p.Ser376Asn missense NM_001400121.1:c.1130G>A NP_001387050.1:p.Ser377Asn missense NM_001400122.1:c.1034G>A NP_001387051.1:p.Ser345Asn missense NM_001400123.1:c.281G>A NP_001387052.1:p.Ser94Asn missense NM_001400124.1:c.281G>A NP_001387053.1:p.Ser94Asn missense NM_001400125.1:c.281G>A NP_001387054.1:p.Ser94Asn missense NM_001400126.1:c.281G>A NP_001387055.1:p.Ser94Asn missense NM_001400127.1:c.281G>A NP_001387056.1:p.Ser94Asn missense NM_001400128.1:c.281G>A NP_001387057.1:p.Ser94Asn missense NM_001400129.1:c.386G>A NP_001387058.1:p.Ser129Asn missense NM_001400130.1:c.251G>A NP_001387059.1:p.Ser84Asn missense NM_001400131.1:c.251G>A NP_001387060.1:p.Ser84Asn missense NM_001400137.1:c.866G>A NP_001387066.1:p.Ser289Asn missense NM_001400138.1:c.-260G>A 5 prime UTR NR_174393.1:n.1113G>A non-coding transcript variant NR_174394.1:n.1134G>A non-coding transcript variant NR_174395.1:n.1077G>A non-coding transcript variant NR_174397.1:n.940G>A non-coding transcript variant NR_174400.1:n.1101G>A non-coding transcript variant NR_174401.1:n.1104G>A non-coding transcript variant NR_174402.1:n.1080G>A non-coding transcript variant NC_000002.12:g.86153574C>T NC_000002.11:g.86380697C>T - Protein change
- S289N, S301N, S356N, S385N, S94N, S129N, S290N, S297N, S386N, S387N, S300N, S369N, S375N, S376N, S84N, S345N, S374N, S377N, S384N, S388N
- Other names
- -
- Canonical SPDI
- NC_000002.12:86153573:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- 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. |
|||
IMMT | - | - |
GRCh38 GRCh37 |
42 | 80 |
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
|
Apr 5, 2023 | RCV004310319.1 |
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. |
|
---|---|---|---|---|---|
Uncertain significance
(Apr 05, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV003959897.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The c.1163G>A (p.S388N) alteration is located in exon 11 (coding exon 11) of the IMMT gene. This alteration results from a G to A substitution … (more)
The c.1163G>A (p.S388N) alteration is located in exon 11 (coding exon 11) of the IMMT gene. This alteration results from a G to A substitution at nucleotide position 1163, causing the serine (S) at amino acid position 388 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
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 May 19, 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.