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NM_000304.4(PMP22):c.179-17G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 10, 2021)
Last evaluated:
Nov 18, 2020
Accession:
VCV000916816.5
Variation ID:
916816
Description:
single nucleotide variant
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NM_000304.4(PMP22):c.179-17G>A

Allele ID
905706
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p12
Genomic location
17: 15239628 (GRCh38) GRCh38 UCSC
17: 15142945 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_263:g.30700G>A
NC_000017.10:g.15142945C>T
NC_000017.11:g.15239628C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:15239627:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.02216 (T)

Allele frequency
1000 Genomes Project 0.02216
Trans-Omics for Precision Medicine (TOPMed) 0.02439
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02768
The Genome Aggregation Database (gnomAD), exomes 0.00621
Exome Aggregation Consortium (ExAC) 0.00761
Links
dbSNP: rs77406217
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter - RCV001172750.1
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001638048.3
Benign 1 criteria provided, single submitter Nov 18, 2020 RCV001517429.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PMP22 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
295 389

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001335816.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Nov 18, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type I
Allele origin: germline
Invitae
Accession: SCV001725918.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001850433.1
Submitted: (Sep 10, 2021)
Evidence details

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.

Text-mined citations for rs77406217...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021