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NM_014053.4(FLVCR1):c.1093-12_1095del

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 21, 2020
Accession:
VCV001067221.1
Variation ID:
1067221
Description:
15bp deletion
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NM_014053.4(FLVCR1):c.1093-12_1095del

Allele ID
1054788
Variant type
Deletion
Variant length
15 bp
Cytogenetic location
1q32.3
Genomic location
1: 212885280-212885294 (GRCh38) GRCh38 UCSC
1: 213058622-213058636 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.213058623_213058637del
NC_000001.11:g.212885281_212885295del
NM_014053.4:c.1093-12_1095del MANE Select splice acceptor
NG_028131.1:g.32027_32041del
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:212885279:AAATTTTTTTCAGGGA:A
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
Likely pathogenic 1 criteria provided, single submitter Jan 21, 2020 RCV001378428.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FLVCR1 - - GRCh38
GRCh37
300 324

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001575995.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This variant results in the deletion of part of exon 5 (c.1093-12_1095del) of the FLVCR1 gene. It is expected to disrupt RNA splicing and likely … (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
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. Chiabrando D PLoS genetics 2016 PMID: 27923065
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Glöckle N European journal of human genetics : EJHG 2014 PMID: 23591405

Record last updated May 13, 2021