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NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 25, 2021)
Last evaluated:
Jun 3, 2020
Accession:
VCV000280129.6
Variation ID:
280129
Description:
single nucleotide variant
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NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)

Allele ID
264207
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q21.21
Genomic location
4: 80072427 (GRCh38) GRCh38 UCSC
4: 80993581 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001145794.1:c.134T>C NP_001139266.1:p.Leu45Pro missense
NC_000004.11:g.80993581A>G
NC_000004.12:g.80072427A>G
... more HGVS
Protein change
L45P
Other names
-
Canonical SPDI
NC_000004.12:80072426:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10602936
UniProtKB: P58335#VAR_022687
dbSNP: rs886041401
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Jun 3, 2020 RCV001261563.3
Pathogenic 1 criteria provided, single submitter Apr 3, 2019 RCV000369962.2
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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
(Apr 03, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000330000.5
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Published functional studies demonstrate that L45P leads to abnormal localization of protein in the cell and improper folding of the von Willebrand factor domain (Deuquet … (more)
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Hyaline fibromatosis syndrome
Allele origin: germline
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
Accession: SCV001438829.1
Submitted: (May 26, 2020)
Evidence details
Pathogenic
(Jun 03, 2020)
criteria provided, single submitter
Method: clinical testing
Hyaline fibromatosis syndrome
Allele origin: unknown
Baylor Genetics
Accession: SCV001523658.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Likely pathogenic
(Nov 12, 2020)
no assertion criteria provided
Method: clinical testing
Hyaline fibromatosis syndrome
Allele origin: germline
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
Accession: SCV001469151.1
Submitted: (Jan 13, 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 rs886041401...

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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 24, 2021