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NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Sep 1, 2021)
Last evaluated:
Aug 6, 2021
Accession:
VCV000813410.2
Variation ID:
813410
Description:
single nucleotide variant
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NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)

Allele ID
801669
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 130476920 (GRCh38) GRCh38 UCSC
9: 133352307 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.133352307C>A
NC_000009.12:g.130476920C>A
NG_011542.1:g.37214C>A
... more HGVS
Protein change
A216D
Other names
-
Canonical SPDI
NC_000009.12:130476919:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs1043964127
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter - RCV001004333.1
Uncertain significance 1 criteria provided, single submitter Aug 6, 2021 RCV001585913.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ASS1 - - GRCh38
GRCh37
435 472

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Citrullinemia type I
Allele origin: germline
Baylor Genetics
Accession: SCV001163231.1
Submitted: (Sep 27, 2019)
Evidence details
Uncertain significance
(Aug 06, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001821365.1
Submitted: (Sep 01, 2021)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: ASS1 c.647C>A (p.Ala216Asp) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging … (more)

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
Early prediction of phenotypic severity in Citrullinemia Type 1. Zielonka M Annals of clinical and translational neurology 2019 PMID: 31469252

Text-mined citations for rs1043964127...

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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 07, 2021