The c.3212C>T (p.A1071V) alteration is located in exon 24 (coding exon 23) of the BAG6 gene. This alteration results from a C to T substitution at nucleotide position 3212, causing the alanine (A) at amino acid position 1071 to be replaced by a valine (V). 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.3302C>T (p.Ala1101Val)
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_001387994.1(BAG6):c.3302C>T (p.Ala1101Val)
Variation ID: 2284140 Accession: VCV002284140.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 6p21.33 6: 31639591 (GRCh38) [ NCBI UCSC ] 6: 31607368 (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 Apr 13, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001387994.1:c.3302C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001374923.1:p.Ala1101Val missense NM_001098534.2:c.3194C>T NP_001092004.1:p.Ala1065Val missense NM_001199697.2:c.2617-365C>T intron variant NM_001199698.2:c.3139-365C>T intron variant NM_001387940.1:c.3139-365C>T intron variant NM_001387942.1:c.3082-365C>T intron variant NM_001387943.1:c.3103-365C>T intron variant NM_001387944.1:c.3085-365C>T intron variant NM_001387946.1:c.3103-365C>T intron variant NM_001387949.1:c.3047C>T NP_001374878.1:p.Ala1016Val missense NM_001387951.1:c.3050C>T NP_001374880.1:p.Ala1017Val missense NM_001387954.1:c.3247-365C>T intron variant NM_001387955.1:c.3136-365C>T intron variant NM_001387956.1:c.3139-365C>T intron variant NM_001387958.1:c.3193-365C>T intron variant NM_001387961.1:c.3194C>T NP_001374890.1:p.Ala1065Val missense NM_001387963.1:c.3137C>T NP_001374892.1:p.Ala1046Val missense NM_001387964.1:c.3140C>T NP_001374893.1:p.Ala1047Val missense NM_001387965.1:c.3247-365C>T intron variant NM_001387982.1:c.3140C>T NP_001374911.1:p.Ala1047Val missense NM_001387983.1:c.3244-365C>T intron variant NM_001387984.1:c.3247-365C>T intron variant NM_001387985.1:c.3274-365C>T intron variant NM_001387986.1:c.3194C>T NP_001374915.1:p.Ala1065Val missense NM_001387987.1:c.3191C>T NP_001374916.1:p.Ala1064Val missense NM_001387988.1:c.3299C>T NP_001374917.1:p.Ala1100Val missense NM_001387989.1:c.3302C>T NP_001374918.1:p.Ala1101Val missense NM_001387990.1:c.3191C>T NP_001374919.1:p.Ala1064Val missense NM_001387991.1:c.3248C>T NP_001374920.1:p.Ala1083Val missense NM_001387992.1:c.3248C>T NP_001374921.1:p.Ala1083Val missense NM_001387993.1:c.3299C>T NP_001374922.1:p.Ala1100Val missense NM_001387995.1:c.3299C>T NP_001374924.1:p.Ala1100Val missense NM_001387996.1:c.3302C>T NP_001374925.1:p.Ala1101Val missense NM_001387997.1:c.3085-365C>T intron variant NM_001387998.1:c.3136-365C>T intron variant NM_001387999.1:c.3139-365C>T intron variant NM_001388000.1:c.3047C>T NP_001374929.1:p.Ala1016Val missense NM_001388001.1:c.3139-365C>T intron variant NM_001388002.1:c.3113C>T NP_001374931.1:p.Ala1038Val missense NM_001388003.1:c.3116C>T NP_001374932.1:p.Ala1039Val missense NM_001388004.1:c.3140C>T NP_001374933.1:p.Ala1047Val missense NM_001388005.1:c.3244-365C>T intron variant NM_001388006.1:c.3247-365C>T intron variant NM_001388007.1:c.3191C>T NP_001374936.1:p.Ala1064Val missense NM_001388008.1:c.3218C>T NP_001374937.1:p.Ala1073Val missense NM_001388009.1:c.3221C>T NP_001374938.1:p.Ala1074Val missense NM_001388010.1:c.3299C>T NP_001374939.1:p.Ala1100Val missense NM_001388011.1:c.3302C>T NP_001374940.1:p.Ala1101Val missense NM_001388012.1:c.3329C>T NP_001374941.1:p.Ala1110Val missense NM_001388013.1:c.2938-365C>T intron variant NM_001388014.1:c.3139-365C>T intron variant NM_001388015.1:c.3194C>T NP_001374944.1:p.Ala1065Val missense NM_001388016.1:c.3244-365C>T intron variant NM_001388017.1:c.3194C>T NP_001374946.1:p.Ala1065Val missense NM_001388018.1:c.3194C>T NP_001374947.1:p.Ala1065Val missense NM_001388019.1:c.3299C>T NP_001374948.1:p.Ala1100Val missense NM_001388020.1:c.3302C>T NP_001374949.1:p.Ala1101Val missense NM_080702.3:c.3194C>T NP_542433.1:p.Ala1065Val missense NM_080703.3:c.3194C>T NP_542434.1:p.Ala1065Val missense NC_000006.12:g.31639591G>A NC_000006.11:g.31607368G>A - Protein change
- A1016V, A1039V, A1046V, A1038V, A1064V, A1074V, A1110V, A1017V, A1073V, A1083V, A1047V, A1065V, A1100V, A1101V
- Other names
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NM_004639.3:c.3212C>T
- Canonical SPDI
- NC_000006.12:31639590:G: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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| 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. |
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| Uncertain significance (1) |
criteria provided, single submitter
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Apr 13, 2022 | RCV004136474.1 |
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 13, 2022)
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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: SCV003611374.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.3212C>T (p.A1071V) alteration is located in exon 24 (coding exon 23) of the BAG6 gene. This alteration results from a C to T substitution … (more)
The c.3212C>T (p.A1071V) alteration is located in exon 24 (coding exon 23) of the BAG6 gene. This alteration results from a C to T substitution at nucleotide position 3212, causing the alanine (A) at amino acid position 1071 to be replaced by a valine (V). 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.3212C>T (p.A1071V) alteration is located in exon 24 (coding exon 23) of the BAG6 gene. This alteration results from a C to T substitution at nucleotide position 3212, causing the alanine (A) at amino acid position 1071 to be replaced by a valine (V). 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.