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NM_000478.6(ALPL):c.330= (p.Ser110=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000512674.5
Variation ID:
512674
Description:
single nucleotide variant
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NM_000478.6(ALPL):c.330= (p.Ser110=)

Allele ID
498176
Variant type
single nucleotide variant
Variant length
-
Cytogenetic location
1p36.12
Genomic location
1: 21563142 (GRCh38) GRCh38 UCSC
1: 21889635 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.21889635=
NC_000001.11:g.21563142=
NG_008940.1:g.58778C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:21563141:T:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.07049 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.05502
Trans-Omics for Precision Medicine (TOPMed) 0.07846
The Genome Aggregation Database (gnomAD), exomes 0.05276
1000 Genomes Project 0.07049
The Genome Aggregation Database (gnomAD) 0.07370
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.07827
Links
ClinGen: CA658795412
dbSNP: rs1780316
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Dec 5, 2020 RCV000710513.5
Likely benign 1 criteria provided, single submitter Dec 21, 2017 RCV000607070.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ALPL - - GRCh38
GRCh37
554 570

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 21, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000723695.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jan 17, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000840751.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001100832.3
Submitted: (Jan 07, 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 rs1780316...

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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 Sep 29, 2021