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NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 8, 2020
Accession:
VCV000719195.4
Variation ID:
719195
Description:
3bp microsatellite
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NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup)

Allele ID
726443
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
16p13.3
Genomic location
16: 1511116-1511117 (GRCh38) GRCh38 UCSC
16: 1561117-1561118 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.1511119CGC[4]
NC_000016.9:g.1561120CGC[4]
NM_014714.4:c.4208GGC[4] MANE Select NP_055529.2:p.Arg1405dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:1511116:GCCGCCGCCGC:GCCGCCGCCGCCGC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs754312950
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jul 8, 2020 RCV000892292.3
Uncertain significance 1 criteria provided, single submitter Oct 10, 2018 RCV001075463.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IFT140 - - GRCh38
GRCh37
533 837

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 10, 2018)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001241086.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Likely benign
(Jul 08, 2020)
criteria provided, single submitter
Method: clinical testing
Saldino-Mainzer syndrome
Allele origin: germline
Invitae
Accession: SCV001036155.3
Submitted: (Jan 07, 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 rs754312950...

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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 May 28, 2021