ClinVar Genomic variation as it relates to human health
NM_003781.4(B3GALNT1):c.665C>A (p.Thr222Asn)
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_003781.4(B3GALNT1):c.665C>A (p.Thr222Asn)
Variation ID: 2262161 Accession: VCV002262161.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3q26.1 3: 161086090 (GRCh38) [ NCBI UCSC ] 3: 160803878 (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 Nov 23, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_003781.4:c.665C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_003772.1:p.Thr222Asn missense NM_001038628.2:c.665C>A NP_001033717.1:p.Thr222Asn missense NM_001349130.2:c.665C>A NP_001336059.1:p.Thr222Asn missense NM_001349131.2:c.665C>A NP_001336060.1:p.Thr222Asn missense NM_001349132.2:c.665C>A NP_001336061.1:p.Thr222Asn missense NM_001349133.2:c.665C>A NP_001336062.1:p.Thr222Asn missense NM_001349134.2:c.665C>A NP_001336063.1:p.Thr222Asn missense NM_001349135.2:c.665C>A NP_001336064.1:p.Thr222Asn missense NM_001349136.2:c.665C>A NP_001336065.1:p.Thr222Asn missense NM_001349137.2:c.665C>A NP_001336066.1:p.Thr222Asn missense NM_001349138.2:c.665C>A NP_001336067.1:p.Thr222Asn missense NM_001349139.2:c.665C>A NP_001336068.1:p.Thr222Asn missense NM_001349140.2:c.665C>A NP_001336069.1:p.Thr222Asn missense NM_001349141.2:c.665C>A NP_001336070.1:p.Thr222Asn missense NM_001349142.2:c.665C>A NP_001336071.1:p.Thr222Asn missense NM_001349143.2:c.665C>A NP_001336072.1:p.Thr222Asn missense NM_001349144.2:c.665C>A NP_001336073.1:p.Thr222Asn missense NM_001349145.2:c.665C>A NP_001336074.1:p.Thr222Asn missense NM_001349146.2:c.665C>A NP_001336075.1:p.Thr222Asn missense NM_001349147.2:c.665C>A NP_001336076.1:p.Thr222Asn missense NM_001349148.2:c.665C>A NP_001336077.1:p.Thr222Asn missense NM_001349149.2:c.665C>A NP_001336078.1:p.Thr222Asn missense NM_001349150.2:c.665C>A NP_001336079.1:p.Thr222Asn missense NM_001349151.2:c.665C>A NP_001336080.1:p.Thr222Asn missense NM_001349152.2:c.665C>A NP_001336081.1:p.Thr222Asn missense NM_001349153.2:c.665C>A NP_001336082.1:p.Thr222Asn missense NM_001349154.2:c.665C>A NP_001336083.1:p.Thr222Asn missense NM_001349155.2:c.665C>A NP_001336084.1:p.Thr222Asn missense NM_001349156.2:c.665C>A NP_001336085.1:p.Thr222Asn missense NM_001349157.2:c.665C>A NP_001336086.1:p.Thr222Asn missense NM_001349158.2:c.665C>A NP_001336087.1:p.Thr222Asn missense NM_001349159.2:c.665C>A NP_001336088.1:p.Thr222Asn missense NM_001349160.1:c.665C>A NP_001336089.1:p.Thr222Asn missense NM_001349161.2:c.665C>A NP_001336090.1:p.Thr222Asn missense NM_001349162.2:c.1025C>A NP_001336091.1:p.Thr342Asn missense NM_001349163.2:c.1025C>A NP_001336092.1:p.Thr342Asn missense NM_033167.3:c.665C>A NP_149357.1:p.Thr222Asn missense NM_033168.3:c.665C>A NP_149358.1:p.Thr222Asn missense NM_033169.3:c.665C>A NP_149359.1:p.Thr222Asn missense NC_000003.12:g.161086090G>T NC_000003.11:g.160803878G>T NG_007854.1:g.24283C>A LRG_820:g.24283C>A LRG_820t1:c.665C>A LRG_820p1:p.Thr222Asn LRG_820t2:c.665C>A LRG_820p2:p.Thr222Asn - Protein change
- T222N, T342N
- Other names
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- Canonical SPDI
- NC_000003.12:161086089:G:T
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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
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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
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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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B3GALNT1 | - | - |
GRCh38 GRCh37 |
21 | 45 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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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Nov 23, 2021 | RCV004115973.1 |
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
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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
(Nov 23, 2021)
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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: SCV003594758.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.665C>A (p.T222N) alteration is located in exon 5 (coding exon 1) of the B3GALNT1 gene. This alteration results from a C to A substitution … (more)
The c.665C>A (p.T222N) alteration is located in exon 5 (coding exon 1) of the B3GALNT1 gene. This alteration results from a C to A substitution at nucleotide position 665, causing the threonine (T) at amino acid position 222 to be replaced by an asparagine (N). 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 12, 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.