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NM_002382.5(MAX):c.344A>G (p.Tyr115Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Jun 21, 2019
Accession:
VCV000882143.2
Variation ID:
882143
Description:
single nucleotide variant
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NM_002382.5(MAX):c.344A>G (p.Tyr115Cys)

Allele ID
872094
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q23.3
Genomic location
14: 65076615 (GRCh38) GRCh38 UCSC
14: 65543333 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.65543333T>C
NC_000014.9:g.65076615T>C
NM_002382.5:c.344A>G MANE Select NP_002373.3:p.Tyr115Cys missense
... more HGVS
Protein change
Y115C, Y52C, Y106C
Other names
-
Canonical SPDI
NC_000014.9:65076614:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001111567.1
Uncertain significance 1 criteria provided, single submitter Jun 21, 2019 RCV001206702.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MAX - - GRCh38
GRCh37
224 266

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Pheochromocytoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001269135.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Jun 21, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Allele origin: germline
Invitae
Accession: SCV001378023.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces tyrosine with cysteine at codon 115 of the MAX protein (p.Tyr115Cys). The tyrosine residue is highly conserved and there is a … (more)

Functional evidence

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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 this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jul 19, 2020