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NM_000487.6(ARSA):c.227_228insTA (p.Ala77fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Mar 1, 2016
Accession:
VCV000370568.1
Variation ID:
370568
Description:
2bp insertion
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NM_000487.6(ARSA):c.227_228insTA (p.Ala77fs)

Allele ID
358689
Variant type
Insertion
Variant length
2 bp
Cytogenetic location
22q13.33
Genomic location
22: 50627403-50627404 (GRCh38) GRCh38 UCSC
22: 51065831-51065832 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51065831_51065832insTA
NC_000022.11:g.50627403_50627404insTA
NG_009260.2:g.5776_5777insTA
... more HGVS
Protein change
A77fs
Other names
-
Canonical SPDI
NC_000022.11:50627403::TA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16042045
dbSNP: rs1057516595
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 Mar 1, 2016 RCV000411185.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARSA - - GRCh38
GRCh37
586 722

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: unknown
Counsyl
Accession: SCV000485919.1
Submitted: (Nov 23, 2016)
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 rs1057516595...

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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 Oct 08, 2021