ClinVar Genomic variation as it relates to human health
NM_002382.5(MAX):c.233dup (p.Asn78fs)
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.233dup (p.Asn78fs)
Variation ID: 141678 Accession: VCV000141678.6
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 14q23.3 14: 65077974-65077975 (GRCh38) [ NCBI UCSC ] 14: 65544692-65544693 (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 Dec 19, 2017 Nov 29, 2022 Dec 14, 2017 - HGVS
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Nucleotide Protein Molecular
consequenceNM_002382.5:c.233dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_002373.3:p.Asn78fs frameshift NM_001271069.2:c.144+15733dup intron variant NM_001320415.2:c.-42dup 5 prime UTR NM_001407094.1:c.229dup NP_001394023.1:p.Asn78Lysfs frameshift NM_001407095.1:c.202dup NP_001394024.1:p.Asn69Lysfs frameshift NM_001407096.1:c.229dup NP_001394025.1:p.Asn78Lysfs frameshift NM_001407097.1:c.229dup NP_001394026.1:p.Asn78Lysfs frameshift NM_001407098.1:c.121dup NP_001394027.1:p.Asn42Lysfs frameshift NM_001407099.1:c.202dup NP_001394028.1:p.Asn69Lysfs frameshift NM_001407100.1:c.202dup NP_001394029.1:p.Asn69Lysfs frameshift NM_001407101.1:c.202dup NP_001394030.1:p.Asn69Lysfs frameshift NM_001407102.1:c.202dup NP_001394031.1:p.Asn69Lysfs frameshift NM_001407103.1:c.229dup NP_001394032.1:p.Asn78Lysfs frameshift NM_001407104.1:c.229dup NP_001394033.1:p.Asn78Lysfs frameshift NM_001407105.1:c.-46dup NM_001407106.1:c.-46dup NM_001407107.1:c.-46dup NM_001407108.1:c.202dup NP_001394037.1:p.Asn69Lysfs frameshift NM_001407109.1:c.202dup NP_001394038.1:p.Asn69Lysfs frameshift NM_001407110.1:c.202dup NP_001394039.1:p.Asn69Lysfs frameshift NM_001407111.1:c.-139dup NM_001407112.1:c.-139dup NM_002382.3:c.233dupA frameshift NM_145112.3:c.206dup NP_660087.1:p.Asn69fs frameshift NM_145113.3:c.233dup NP_660088.1:p.Asn78fs frameshift NM_197957.4:c.171+15733dup intron variant NR_073137.2:n.353dup NR_176275.1:n.371dup NR_176278.1:n.202dup NR_176279.1:n.305dup NR_176280.1:n.371dup NR_176281.1:n.371dup NR_176282.1:n.175dup NC_000014.9:g.65077979dup NC_000014.8:g.65544697dup NG_029830.1:g.29535dup LRG_530:g.29535dup LRG_530t1:c.229dup LRG_530p1:p.Asn78Lysfs - Protein change
- N78fs, N69fs
- Other names
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- Canonical SPDI
- NC_000014.9:65077974:TTTTT:TTTTTT
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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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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
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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
Help
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
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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Pathogenic (1) |
criteria provided, single submitter
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Oct 4, 2016 | RCV000130290.5 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Dec 14, 2017 | RCV000657300.2 |
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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Likely pathogenic
(Dec 14, 2017)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000779031.1
First in ClinVar: Jul 09, 2018 Last updated: Jul 09, 2018 |
Comment:
This duplication of one nucleotide in MAX is denoted c.233dupA at the cDNA level and p.Asn78LysfsX9 (N78KfsX9) at the protein level. The normal sequence, with … (more)
This duplication of one nucleotide in MAX is denoted c.233dupA at the cDNA level and p.Asn78LysfsX9 (N78KfsX9) at the protein level. The normal sequence, with the base that is duplicated in brackets, is GAAAA[dupA]CCAC. The duplication causes a frameshift which changes an Asparagine to a Lysine at codon 78, and creates a premature stop codon at position 9 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. MAX c.233dupA has been observed in at least one individual undergoing multi-gene panel testing at a clinical laboratory (LaDuca 2017). Based on the currently available information, we consider this duplication to be a likely pathogenic variant. (less)
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Pathogenic
(Oct 04, 2016)
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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: SCV000185138.7
First in ClinVar: Aug 06, 2014 Last updated: Nov 29, 2022 |
Comment:
The c.233dupA pathogenic mutation, located in coding exon 4 of the MAX gene, results from a duplication of A at nucleotide position 233, causing a … (more)
The c.233dupA pathogenic mutation, located in coding exon 4 of the MAX gene, results from a duplication of A at nucleotide position 233, causing a translational frameshift with a predicted alternate stop codon. This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. (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 rs587781931 ...
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.