ClinVar Genomic variation as it relates to human health
NM_002382.5(MAX):c.173del (p.Ala58fs)
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_002382.5(MAX):c.173del (p.Ala58fs)
Variation ID: 1779169 Accession: VCV001779169.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 14q23.3 14: 65078035 (GRCh38) [ NCBI UCSC ] 14: 65544753 (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 Nov 29, 2022 Nov 29, 2022 Dec 10, 2015 - HGVS
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Nucleotide Protein Molecular
consequenceNM_002382.5:c.173del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_002373.3:p.Ala58fs frameshift NM_001271069.2:c.144+15673del intron variant NM_001320415.2:c.-102del 5 prime UTR NM_001407094.1:c.173delC NP_001394023.1:p.Ala58Aspfs frameshift NM_001407095.1:c.146delC NP_001394024.1:p.Ala49Aspfs frameshift NM_001407096.1:c.173delC NP_001394025.1:p.Ala58Aspfs frameshift NM_001407097.1:c.173delC NP_001394026.1:p.Ala58Aspfs frameshift NM_001407098.1:c.65delC NP_001394027.1:p.Ala22Aspfs frameshift NM_001407099.1:c.146delC NP_001394028.1:p.Ala49Aspfs frameshift NM_001407100.1:c.146delC NP_001394029.1:p.Ala49Aspfs frameshift NM_001407101.1:c.146delC NP_001394030.1:p.Ala49Aspfs frameshift NM_001407102.1:c.146delC NP_001394031.1:p.Ala49Aspfs frameshift NM_001407103.1:c.173delC NP_001394032.1:p.Ala58Aspfs frameshift NM_001407104.1:c.173delC NP_001394033.1:p.Ala58Aspfs frameshift NM_001407105.1:c.-102delC NM_001407106.1:c.-102delC NM_001407107.1:c.-102delC NM_001407108.1:c.146delC NP_001394037.1:p.Ala49Aspfs frameshift NM_001407109.1:c.146delC NP_001394038.1:p.Ala49Aspfs frameshift NM_001407110.1:c.146delC NP_001394039.1:p.Ala49Aspfs frameshift NM_001407111.1:c.-195delC NM_001407112.1:c.-195delC NM_145112.3:c.146del NP_660087.1:p.Ala49fs frameshift NM_145113.3:c.173del NP_660088.1:p.Ala58fs frameshift NM_197957.4:c.171+15673del intron variant NR_073137.2:n.297delC NR_176275.1:n.315delC NR_176278.1:n.146delC NR_176279.1:n.249delC NR_176280.1:n.315delC NR_176281.1:n.315delC NR_176282.1:n.119delC NC_000014.9:g.65078035del NC_000014.8:g.65544753del NG_029830.1:g.29475del LRG_530:g.29475del LRG_530t1:c.173del LRG_530p1:p.Ala58Aspfs - Protein change
- A58fs, A49fs
- Other names
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- Canonical SPDI
- NC_000014.9:65078034:G:
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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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MAX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
385 | 528 |
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
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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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Pathogenic (1) |
criteria provided, single submitter
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Dec 10, 2015 | RCV002407483.1 |
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
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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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Pathogenic
(Dec 10, 2015)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002715766.1
First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022 |
Comment:
The c.173delC pathogenic mutation, located in coding exon 4 of the MAX gene, results from a deletion of one nucleotide at nucleotide position 173, causing … (more)
The c.173delC pathogenic mutation, located in coding exon 4 of the MAX gene, results from a deletion of one nucleotide at nucleotide position 173, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). (less)
Number of individuals with the variant: 1
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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 Dec 25, 2023
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.