The c.3311C>G (p.S1104C) alteration is located in exon 25 (coding exon 24) of the BAG6 gene. This alteration results from a C to G substitution at nucleotide position 3311, causing the serine (S) at amino acid position 1104 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_001387994.1(BAG6):c.3401C>G (p.Ser1134Cys)
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_001387994.1(BAG6):c.3401C>G (p.Ser1134Cys)
Variation ID: 3260283 Accession: VCV003260283.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 6p21.33 6: 31639219 (GRCh38) [ NCBI UCSC ] 6: 31606996 (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 Aug 11, 2024 Aug 11, 2024 Mar 25, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001387994.1:c.3401C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001374923.1:p.Ser1134Cys missense NM_001098534.2:c.3293C>G NP_001092004.1:p.Ser1098Cys missense NM_001199697.2:c.2624C>G NP_001186626.1:p.Ser875Cys missense NM_001199698.2:c.3146C>G NP_001186627.1:p.Ser1049Cys missense NM_001387940.1:c.3146C>G NP_001374869.1:p.Ser1049Cys missense NM_001387942.1:c.3089C>G NP_001374871.1:p.Ser1030Cys missense NM_001387943.1:c.3110C>G NP_001374872.1:p.Ser1037Cys missense NM_001387944.1:c.3092C>G NP_001374873.1:p.Ser1031Cys missense NM_001387946.1:c.3110C>G NP_001374875.1:p.Ser1037Cys missense NM_001387949.1:c.3146C>G NP_001374878.1:p.Ser1049Cys missense NM_001387951.1:c.3149C>G NP_001374880.1:p.Ser1050Cys missense NM_001387954.1:c.3254C>G NP_001374883.1:p.Ser1085Cys missense NM_001387955.1:c.3143C>G NP_001374884.1:p.Ser1048Cys missense NM_001387956.1:c.3146C>G NP_001374885.1:p.Ser1049Cys missense NM_001387958.1:c.3200C>G NP_001374887.1:p.Ser1067Cys missense NM_001387961.1:c.3293C>G NP_001374890.1:p.Ser1098Cys missense NM_001387963.1:c.3236C>G NP_001374892.1:p.Ser1079Cys missense NM_001387964.1:c.3239C>G NP_001374893.1:p.Ser1080Cys missense NM_001387965.1:c.3254C>G NP_001374894.1:p.Ser1085Cys missense NM_001387982.1:c.3239C>G NP_001374911.1:p.Ser1080Cys missense NM_001387983.1:c.3251C>G NP_001374912.1:p.Ser1084Cys missense NM_001387984.1:c.3254C>G NP_001374913.1:p.Ser1085Cys missense NM_001387985.1:c.3281C>G NP_001374914.1:p.Ser1094Cys missense NM_001387986.1:c.3293C>G NP_001374915.1:p.Ser1098Cys missense NM_001387987.1:c.3290C>G NP_001374916.1:p.Ser1097Cys missense NM_001387988.1:c.3398C>G NP_001374917.1:p.Ser1133Cys missense NM_001387989.1:c.3401C>G NP_001374918.1:p.Ser1134Cys missense NM_001387990.1:c.3290C>G NP_001374919.1:p.Ser1097Cys missense NM_001387991.1:c.3347C>G NP_001374920.1:p.Ser1116Cys missense NM_001387992.1:c.3347C>G NP_001374921.1:p.Ser1116Cys missense NM_001387993.1:c.3398C>G NP_001374922.1:p.Ser1133Cys missense NM_001387995.1:c.3398C>G NP_001374924.1:p.Ser1133Cys missense NM_001387996.1:c.3401C>G NP_001374925.1:p.Ser1134Cys missense NM_001387997.1:c.3092C>G NP_001374926.1:p.Ser1031Cys missense NM_001387998.1:c.3143C>G NP_001374927.1:p.Ser1048Cys missense NM_001387999.1:c.3146C>G NP_001374928.1:p.Ser1049Cys missense NM_001388000.1:c.3146C>G NP_001374929.1:p.Ser1049Cys missense NM_001388001.1:c.3146C>G NP_001374930.1:p.Ser1049Cys missense NM_001388002.1:c.3212C>G NP_001374931.1:p.Ser1071Cys missense NM_001388003.1:c.3215C>G NP_001374932.1:p.Ser1072Cys missense NM_001388004.1:c.3239C>G NP_001374933.1:p.Ser1080Cys missense NM_001388005.1:c.3251C>G NP_001374934.1:p.Ser1084Cys missense NM_001388006.1:c.3254C>G NP_001374935.1:p.Ser1085Cys missense NM_001388007.1:c.3290C>G NP_001374936.1:p.Ser1097Cys missense NM_001388008.1:c.3317C>G NP_001374937.1:p.Ser1106Cys missense NM_001388009.1:c.3320C>G NP_001374938.1:p.Ser1107Cys missense NM_001388010.1:c.3398C>G NP_001374939.1:p.Ser1133Cys missense NM_001388011.1:c.3401C>G NP_001374940.1:p.Ser1134Cys missense NM_001388012.1:c.3428C>G NP_001374941.1:p.Ser1143Cys missense NM_001388013.1:c.2945C>G NP_001374942.1:p.Ser982Cys missense NM_001388014.1:c.3146C>G NP_001374943.1:p.Ser1049Cys missense NM_001388015.1:c.3293C>G NP_001374944.1:p.Ser1098Cys missense NM_001388016.1:c.3251C>G NP_001374945.1:p.Ser1084Cys missense NM_001388017.1:c.3293C>G NP_001374946.1:p.Ser1098Cys missense NM_001388018.1:c.3293C>G NP_001374947.1:p.Ser1098Cys missense NM_001388019.1:c.3398C>G NP_001374948.1:p.Ser1133Cys missense NM_001388020.1:c.3401C>G NP_001374949.1:p.Ser1134Cys missense NM_080702.3:c.3293C>G NP_542433.1:p.Ser1098Cys missense NM_080703.3:c.3293C>G NP_542434.1:p.Ser1098Cys missense NC_000006.12:g.31639219G>C NC_000006.11:g.31606996G>C - Protein change
- S1049C, S1050C, S1085C, S1106C, S1037C, S1067C, S1079C, S1080C, S1094C, S1098C, S1107C, S1133C, S1143C, S875C, S1030C, S1071C, S1072C, S1084C, S1097C, S982C, S1031C, S1048C, S1116C, S1134C
- Other names
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NM_004639.3:c.3311C>G
- Canonical SPDI
- NC_000006.12:31639218:G: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 | ||
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| 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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| BAG6 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
48 | 57 | |
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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Mar 25, 2024 | RCV004605521.1 |
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
(Mar 25, 2024)
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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: SCV005094968.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
The c.3311C>G (p.S1104C) alteration is located in exon 25 (coding exon 24) of the BAG6 gene. This alteration results from a C to G substitution … (more)
The c.3311C>G (p.S1104C) alteration is located in exon 25 (coding exon 24) of the BAG6 gene. This alteration results from a C to G substitution at nucleotide position 3311, causing the serine (S) at amino acid position 1104 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.3311C>G (p.S1104C) alteration is located in exon 25 (coding exon 24) of the BAG6 gene. This alteration results from a C to G substitution at nucleotide position 3311, causing the serine (S) at amino acid position 1104 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 Aug 11, 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.