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NM_058172.6(ANTXR2):c.1148G>A (p.Gly383Asp)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jun 27, 2016)
Last evaluated:
Jan 1, 2015
Accession:
VCV000266112.1
Variation ID:
266112
Description:
single nucleotide variant
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NM_058172.6(ANTXR2):c.1148G>A (p.Gly383Asp)

Allele ID
260936
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q21.21
Genomic location
4: 79983909 (GRCh38) GRCh38 UCSC
4: 80905063 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.80905063C>T
NC_000004.12:g.79983909C>T
NG_015987.1:g.94415G>A
... more HGVS
Protein change
G383D, G306D
Other names
-
Canonical SPDI
NC_000004.12:79983908:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10588987
dbSNP: rs886039907
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 no assertion criteria provided Jan 1, 2015 RCV000256477.1

Clinical features observed in individuals with this variant

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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
Likely pathogenic
(Jan 01, 2015)
no assertion criteria provided
Method: research
Hyaline fibromatosis syndrome
Allele origin: unknown
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics
Accession: SCV000323248.1
Submitted: (Jun 27, 2016)
Comment:
Missense variant
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 rs886039907...

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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