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NM_000235.4(LIPA):c.756A>C (p.Ile252=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000198408.4
Variation ID:
198408
Description:
single nucleotide variant
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NM_000235.4(LIPA):c.756A>C (p.Ile252=)

Allele ID
195569
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 89223750 (GRCh38) GRCh38 UCSC
10: 90983507 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.90983507T>G
NC_000010.11:g.89223750T>G
NM_000235.4:c.756A>C MANE Select NP_000226.2:p.Ile252= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:89223749:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00240 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00208
Trans-Omics for Precision Medicine (TOPMed) 0.00142
1000 Genomes Project 0.00240
The Genome Aggregation Database (gnomAD) 0.00178
Links
ClinGen: CA203396
dbSNP: rs145037134
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 Dec 30, 2014 RCV000179736.1
Benign 1 criteria provided, single submitter Dec 2, 2020 RCV001081963.2
Likely benign 1 no assertion criteria provided May 16, 2017 RCV000675914.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LIPA - - GRCh38
GRCh37
315 332

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 30, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000232032.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Wolman disease
Allele origin: germline
Invitae
Accession: SCV001122514.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 16, 2017)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000801641.1
Submitted: (May 23, 2018)
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.

Text-mined citations for rs145037134...

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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 Jun 14, 2021