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NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000066457.10
Variation ID:
66457
Description:
single nucleotide variant
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NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)

Allele ID
77354
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 44915347 (GRCh38) GRCh38 UCSC
17: 42992715 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P14136:p.Pro47Leu
NC_000017.10:g.42992715G>A
NC_000017.11:g.44915347G>A
... more HGVS
Protein change
P47L
Other names
-
Canonical SPDI
NC_000017.11:44915346:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00723
The Genome Aggregation Database (gnomAD) 0.00708
The Genome Aggregation Database (gnomAD), exomes 0.00493
Trans-Omics for Precision Medicine (TOPMed) 0.00493
Exome Aggregation Consortium (ExAC) 0.00510
1000 Genomes Project 0.00200
Trans-Omics for Precision Medicine (TOPMed) 0.00470
The Genome Aggregation Database (gnomAD) 0.00543
Links
ClinGen: CA217146
UniProtKB: P14136#VAR_017464
dbSNP: rs57474185
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 5 criteria provided, multiple submitters, no conflicts Dec 4, 2020 RCV000056852.7
Likely benign 1 criteria provided, single submitter May 6, 2013 RCV000210687.2
Likely benign 1 criteria provided, single submitter May 28, 2019 RCV000263951.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GFAP - - GRCh38
GRCh37
255 286

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely Benign
(Dec 29, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000511158.1
Submitted: (Feb 17, 2017)
Evidence details
Comment:
Converted during submission to Likely benign.
Benign
(Nov 17, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842191.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (3)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001101417.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Alexander Disease
Allele origin: unknown
Mendelics
Accession: SCV001140671.1
Submitted: (Oct 22, 2019)
Evidence details
Likely benign
(May 06, 2013)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV000263019.4
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
Likely benign
(Jun 08, 2017)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories,Mayo Clinic
Accession: SCV000801098.1
Submitted: (May 23, 2018)
Evidence details
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
Epithelial Biology; Institute of Medical Biology, Singapore
Accession: SCV000087965.1
Submitted: (Jul 31, 2012)
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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Title Author Journal Year Link
Neurosurgical management of leukoencephalopathy, cerebral calcifications, and cysts: A case report and review of literature. Berry-Candelario J Surgical neurology international 2011 PMID: 22140645
Alexander disease: new insights from genetics. Messing A Journal of neuropathology and experimental neurology 2001 PMID: 11398833
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Brenner M Nature genetics 2001 PMID: 11138011

Text-mined citations for rs57474185...

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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 Dec 02, 2021