ClinVar Genomic variation as it relates to human health
NM_001387994.1(BAG6):c.3458A>G (p.Asn1153Ser)
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_001387994.1(BAG6):c.3458A>G (p.Asn1153Ser)
Variation ID: 2464438 Accession: VCV002464438.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 6p21.33 6: 31639162 (GRCh38) [ NCBI UCSC ] 6: 31606939 (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 Apr 15, 2023 May 1, 2024 Jan 26, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001387994.1:c.3458A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001374923.1:p.Asn1153Ser missense NM_001098534.2:c.3350A>G NP_001092004.1:p.Asn1117Ser missense NM_001199697.2:c.2681A>G NP_001186626.1:p.Asn894Ser missense NM_001199698.2:c.3203A>G NP_001186627.1:p.Asn1068Ser missense NM_001387940.1:c.3203A>G NP_001374869.1:p.Asn1068Ser missense NM_001387942.1:c.3146A>G NP_001374871.1:p.Asn1049Ser missense NM_001387943.1:c.3167A>G NP_001374872.1:p.Asn1056Ser missense NM_001387944.1:c.3149A>G NP_001374873.1:p.Asn1050Ser missense NM_001387946.1:c.3167A>G NP_001374875.1:p.Asn1056Ser missense NM_001387949.1:c.3203A>G NP_001374878.1:p.Asn1068Ser missense NM_001387951.1:c.3206A>G NP_001374880.1:p.Asn1069Ser missense NM_001387954.1:c.3311A>G NP_001374883.1:p.Asn1104Ser missense NM_001387955.1:c.3200A>G NP_001374884.1:p.Asn1067Ser missense NM_001387956.1:c.3203A>G NP_001374885.1:p.Asn1068Ser missense NM_001387958.1:c.3257A>G NP_001374887.1:p.Asn1086Ser missense NM_001387961.1:c.3350A>G NP_001374890.1:p.Asn1117Ser missense NM_001387963.1:c.3293A>G NP_001374892.1:p.Asn1098Ser missense NM_001387964.1:c.3296A>G NP_001374893.1:p.Asn1099Ser missense NM_001387965.1:c.3311A>G NP_001374894.1:p.Asn1104Ser missense NM_001387982.1:c.3296A>G NP_001374911.1:p.Asn1099Ser missense NM_001387983.1:c.3308A>G NP_001374912.1:p.Asn1103Ser missense NM_001387984.1:c.3311A>G NP_001374913.1:p.Asn1104Ser missense NM_001387985.1:c.3338A>G NP_001374914.1:p.Asn1113Ser missense NM_001387986.1:c.3350A>G NP_001374915.1:p.Asn1117Ser missense NM_001387987.1:c.3347A>G NP_001374916.1:p.Asn1116Ser missense NM_001387988.1:c.3455A>G NP_001374917.1:p.Asn1152Ser missense NM_001387989.1:c.3458A>G NP_001374918.1:p.Asn1153Ser missense NM_001387990.1:c.3347A>G NP_001374919.1:p.Asn1116Ser missense NM_001387991.1:c.3404A>G NP_001374920.1:p.Asn1135Ser missense NM_001387992.1:c.3404A>G NP_001374921.1:p.Asn1135Ser missense NM_001387993.1:c.3455A>G NP_001374922.1:p.Asn1152Ser missense NM_001387995.1:c.3455A>G NP_001374924.1:p.Asn1152Ser missense NM_001387996.1:c.3458A>G NP_001374925.1:p.Asn1153Ser missense NM_001387997.1:c.3149A>G NP_001374926.1:p.Asn1050Ser missense NM_001387998.1:c.3200A>G NP_001374927.1:p.Asn1067Ser missense NM_001387999.1:c.3203A>G NP_001374928.1:p.Asn1068Ser missense NM_001388000.1:c.3203A>G NP_001374929.1:p.Asn1068Ser missense NM_001388001.1:c.3203A>G NP_001374930.1:p.Asn1068Ser missense NM_001388002.1:c.3269A>G NP_001374931.1:p.Asn1090Ser missense NM_001388003.1:c.3272A>G NP_001374932.1:p.Asn1091Ser missense NM_001388004.1:c.3296A>G NP_001374933.1:p.Asn1099Ser missense NM_001388005.1:c.3308A>G NP_001374934.1:p.Asn1103Ser missense NM_001388006.1:c.3311A>G NP_001374935.1:p.Asn1104Ser missense NM_001388007.1:c.3347A>G NP_001374936.1:p.Asn1116Ser missense NM_001388008.1:c.3374A>G NP_001374937.1:p.Asn1125Ser missense NM_001388009.1:c.3377A>G NP_001374938.1:p.Asn1126Ser missense NM_001388010.1:c.3455A>G NP_001374939.1:p.Asn1152Ser missense NM_001388011.1:c.3458A>G NP_001374940.1:p.Asn1153Ser missense NM_001388012.1:c.3485A>G NP_001374941.1:p.Asn1162Ser missense NM_001388013.1:c.3002A>G NP_001374942.1:p.Asn1001Ser missense NM_001388014.1:c.3203A>G NP_001374943.1:p.Asn1068Ser missense NM_001388015.1:c.3350A>G NP_001374944.1:p.Asn1117Ser missense NM_001388016.1:c.3308A>G NP_001374945.1:p.Asn1103Ser missense NM_001388017.1:c.3350A>G NP_001374946.1:p.Asn1117Ser missense NM_001388018.1:c.3350A>G NP_001374947.1:p.Asn1117Ser missense NM_001388019.1:c.3455A>G NP_001374948.1:p.Asn1152Ser missense NM_001388020.1:c.3458A>G NP_001374949.1:p.Asn1153Ser missense NM_080702.3:c.3350A>G NP_542433.1:p.Asn1117Ser missense NM_080703.3:c.3350A>G NP_542434.1:p.Asn1117Ser missense NC_000006.12:g.31639162T>C NC_000006.11:g.31606939T>C - Protein change
- N1090S, N1091S, N1098S, N1099S, N1116S, N1125S, N1153S, N1067S, N1068S, N1103S, N1117S, N1126S, N1135S, N1152S, N1162S, N1001S, N1069S, N1086S, N1049S, N1050S, N1056S, N1104S, N1113S, N894S
- Other names
- NM_004639.3:c.3368A>G
- Canonical SPDI
- NC_000006.12:31639161:T: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
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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 | ||
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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
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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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BAG6 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
45 | 54 |
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
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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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Uncertain significance (1) |
criteria provided, single submitter
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Jan 26, 2023 | RCV004262474.1 |
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
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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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Uncertain significance
(Jan 26, 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: SCV003880335.2
First in ClinVar: Apr 15, 2023 Last updated: May 01, 2024 |
Comment:
The c.3368A>G (p.N1123S) alteration is located in exon 25 (coding exon 24) of the BAG6 gene. This alteration results from a A to G substitution … (more)
The c.3368A>G (p.N1123S) alteration is located in exon 25 (coding exon 24) of the BAG6 gene. This alteration results from a A to G substitution at nucleotide position 3368, causing the asparagine (N) at amino acid position 1123 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
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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 this variant ...
HelpRecord last updated May 27, 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.