ClinVar Genomic variation as it relates to human health
NM_001370100.5(ZMYND11):c.979G>A (p.Asp327Asn)
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_001370100.5(ZMYND11):c.979G>A (p.Asp327Asn)
Variation ID: 2792509 Accession: VCV002792509.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 10p15.3 10: 246794 (GRCh38) [ NCBI UCSC ] 10: 292734 (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 20, 2024 Feb 20, 2024 Aug 4, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001370100.5:c.979G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357029.1:p.Asp327Asn missense NM_001161482.1:c.979G>A NP_001154954.1:p.Asp327Asn missense NM_001202464.3:c.817G>A NP_001189393.1:p.Asp273Asn missense NM_001202465.3:c.724G>A NP_001189394.1:p.Asp242Asn missense NM_001202466.3:c.814G>A NP_001189395.1:p.Asp272Asn missense NM_001202467.1:c.817G>A NP_001189396.1:p.Asp273Asn missense NM_001202468.1:c.979G>A NP_001189397.1:p.Asp327Asn missense NM_001330057.3:c.928G>A NP_001316986.1:p.Asp310Asn missense NM_001370097.3:c.979G>A NP_001357026.1:p.Asp327Asn missense NM_001370098.2:c.979G>A NP_001357027.1:p.Asp327Asn missense NM_001370099.2:c.979G>A NP_001357028.1:p.Asp327Asn missense NM_001370101.2:c.979G>A NP_001357030.1:p.Asp327Asn missense NM_001370102.2:c.979G>A NP_001357031.1:p.Asp327Asn missense NM_001370103.2:c.817G>A NP_001357032.1:p.Asp273Asn missense NM_001370104.2:c.817G>A NP_001357033.1:p.Asp273Asn missense NM_001370105.2:c.817G>A NP_001357034.1:p.Asp273Asn missense NM_001370106.2:c.817G>A NP_001357035.1:p.Asp273Asn missense NM_001370107.2:c.817G>A NP_001357036.1:p.Asp273Asn missense NM_001370108.2:c.817G>A NP_001357037.1:p.Asp273Asn missense NM_001370109.2:c.817G>A NP_001357038.1:p.Asp273Asn missense NM_001370110.2:c.724G>A NP_001357039.1:p.Asp242Asn missense NM_001370111.2:c.814G>A NP_001357040.1:p.Asp272Asn missense NM_001370112.2:c.928G>A NP_001357041.1:p.Asp310Asn missense NM_001370113.2:c.886G>A NP_001357042.1:p.Asp296Asn missense NM_001370114.2:c.886G>A NP_001357043.1:p.Asp296Asn missense NM_001370115.2:c.976G>A NP_001357044.1:p.Asp326Asn missense NM_001370116.2:c.913G>A NP_001357045.1:p.Asp305Asn missense NM_001370117.2:c.979G>A NP_001357046.1:p.Asp327Asn missense NM_001370118.2:c.859G>A NP_001357047.1:p.Asp287Asn missense NM_001370119.2:c.901G>A NP_001357048.1:p.Asp301Asn missense NM_001370120.2:c.751G>A NP_001357049.1:p.Asp251Asn missense NM_001370121.2:c.697G>A NP_001357050.1:p.Asp233Asn missense NM_001370122.2:c.673G>A NP_001357051.1:p.Asp225Asn missense NM_001370123.2:c.622G>A NP_001357052.1:p.Asp208Asn missense NM_001370124.3:c.508G>A NP_001357053.1:p.Asp170Asn missense NM_006624.7:c.979G>A NP_006615.2:p.Asp327Asn missense NM_212479.4:c.976G>A NP_997644.2:p.Asp326Asn missense NR_163254.2:n.1010G>A non-coding transcript variant NC_000010.11:g.246794G>A NC_000010.10:g.292734G>A NG_029960.1:g.117330G>A - Protein change
- D170N, D233N, D208N, D225N, D242N, D251N, D272N, D273N, D296N, D301N, D327N, D287N, D305N, D310N, D326N
- Other names
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- Canonical SPDI
- NC_000010.11:246793: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
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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 | ||
|---|---|---|---|---|---|---|
| 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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| ZMYND11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
233 | 372 | |
Conditions - Germline
| Condition
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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. |
|---|---|---|---|---|
| Benign (1) |
criteria provided, single submitter
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Aug 4, 2023 | RCV003667282.2 |
Submissions - Germline
| Classification
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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
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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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Benign
(Aug 04, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV004388200.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
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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
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 Sep 30, 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.