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NM_058172.6(ANTXR2):c.1069del (p.Ala357fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 26, 2020)
Accession:
VCV000982062.1
Variation ID:
982062
Description:
1bp deletion
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NM_058172.6(ANTXR2):c.1069del (p.Ala357fs)

Allele ID
970211
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
4q21.21
Genomic location
4: 79984836 (GRCh38) GRCh38 UCSC
4: 80905990 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.80905990del
NC_000004.12:g.79984836del
NG_015987.1:g.93488del
... more HGVS
Protein change
A280fs, A357fs
Other names
-
Canonical SPDI
NC_000004.12:79984835:C:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter - RCV001261564.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ANTXR2 - - GRCh38
GRCh37
215 242

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Hyaline fibromatosis syndrome
Allele origin: germline
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
Accession: SCV001438830.1
Submitted: (May 26, 2020)
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.

Record last updated Oct 08, 2021