ClinVar Genomic variation as it relates to human health
NM_001048174.2(MUTYH):c.956A>G (p.Glu319Gly)
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_001048174.2(MUTYH):c.956A>G (p.Glu319Gly)
Variation ID: 2163021 Accession: VCV002163021.5
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1p34.1 1: 45331807 (GRCh38) [ NCBI UCSC ] 1: 45797479 (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 Jun 17, 2024 Feb 28, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001048174.2:c.956A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001041639.1:p.Glu319Gly missense NM_001128425.2:c.1040A>G MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001121897.1:p.Glu347Gly missense NM_001048171.2:c.956A>G NP_001041636.2:p.Glu319Gly missense NM_001048172.2:c.959A>G NP_001041637.1:p.Glu320Gly missense NM_001048173.2:c.956A>G NP_001041638.1:p.Glu319Gly missense NM_001293190.2:c.1001A>G NP_001280119.1:p.Glu334Gly missense NM_001293191.2:c.989A>G NP_001280120.1:p.Glu330Gly missense NM_001293192.2:c.680A>G NP_001280121.1:p.Glu227Gly missense NM_001293195.2:c.956A>G NP_001280124.1:p.Glu319Gly missense NM_001293196.2:c.680A>G NP_001280125.1:p.Glu227Gly missense NM_001350650.2:c.611A>G NP_001337579.1:p.Glu204Gly missense NM_001350651.2:c.611A>G NP_001337580.1:p.Glu204Gly missense NM_001407069.1:c.989A>G NP_001393998.1:p.Glu330Gly missense NM_001407070.1:c.956A>G NP_001393999.1:p.Glu319Gly missense NM_001407071.1:c.959A>G NP_001394000.1:p.Glu320Gly missense NM_001407072.1:c.956A>G NP_001394001.1:p.Glu319Gly missense NM_001407073.1:c.956A>G NP_001394002.1:p.Glu319Gly missense NM_001407075.1:c.872A>G NP_001394004.1:p.Glu291Gly missense NM_001407077.1:c.989A>G NP_001394006.1:p.Glu330Gly missense NM_001407078.1:c.959A>G NP_001394007.1:p.Glu320Gly missense NM_001407079.1:c.917A>G NP_001394008.1:p.Glu306Gly missense NM_001407080.1:c.914A>G NP_001394009.1:p.Glu305Gly missense NM_001407081.1:c.956A>G NP_001394010.1:p.Glu319Gly missense NM_001407082.1:c.611A>G NP_001394011.1:p.Glu204Gly missense NM_001407083.1:c.998A>G NP_001394012.1:p.Glu333Gly missense NM_001407085.1:c.998A>G NP_001394014.1:p.Glu333Gly missense NM_001407086.1:c.959A>G NP_001394015.1:p.Glu320Gly missense NM_001407087.1:c.977A>G NP_001394016.1:p.Glu326Gly missense NM_001407088.1:c.956A>G NP_001394017.1:p.Glu319Gly missense NM_001407089.1:c.956A>G NP_001394018.1:p.Glu319Gly missense NM_001407091.1:c.680A>G NP_001394020.1:p.Glu227Gly missense NM_012222.3:c.1031A>G NP_036354.1:p.Glu344Gly missense NR_146882.2:n.1184A>G non-coding transcript variant NR_146883.2:n.1033A>G non-coding transcript variant NR_176269.1:n.1180A>G NR_176270.1:n.1120A>G NR_176271.1:n.1043A>G NR_176272.1:n.1107A>G NR_176273.1:n.1065A>G NR_176274.1:n.1120A>G NC_000001.11:g.45331807T>C NC_000001.10:g.45797479T>C NG_008189.1:g.13664A>G LRG_220:g.13664A>G LRG_220t1:c.1040A>G LRG_220p1:p.Glu347Gly - Protein change
- E291G, E333G, E204G, E319G, E320G, E305G, E306G, E344G, E347G, E227G, E326G, E330G, E334G
- Other names
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- Canonical SPDI
- NC_000001.11:45331806:T:C
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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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MUTYH | - | - |
GRCh38 GRCh37 |
2686 | 2842 |
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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Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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Feb 28, 2024 | RCV003070541.4 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jul 17, 2023 | RCV003367988.2 |
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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Uncertain significance
(Jun 13, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial adenomatous polyposis 2
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV003476846.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 347 of the MUTYH protein (p.Glu347Gly). (less)
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Uncertain significance
(Jul 17, 2023)
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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: SCV004084573.2
First in ClinVar: Oct 28, 2023 Last updated: May 01, 2024 |
Comment:
The p.E347G variant (also known as c.1040A>G), located in coding exon 12 of the MUTYH gene, results from an A to G substitution at nucleotide … (more)
The p.E347G variant (also known as c.1040A>G), located in coding exon 12 of the MUTYH gene, results from an A to G substitution at nucleotide position 1040. The glutamic acid at codon 347 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
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Uncertain significance
(Feb 28, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial adenomatous polyposis 2
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV005056041.1
First in ClinVar: Jun 17, 2024 Last updated: Jun 17, 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
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 Sep 29, 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.