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NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 31, 2020)
Last evaluated:
Mar 25, 2020
Accession:
VCV000802517.2
Variation ID:
802517
Description:
2bp microsatellite
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NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs)

Allele ID
790844
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
9q34.11
Genomic location
9: 128360356-128360357 (GRCh38) GRCh38 UCSC
9: 131122635-131122636 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.131122635AG[1]
NC_000009.12:g.128360356AG[1]
NG_017057.1:g.24797AG[1]
NM_005094.4:c.1799_1800del MANE Select NP_005085.2:p.Glu600fs frameshift
Protein change
E600fs
Other names
-
Canonical SPDI
NC_000009.12:128360355:AGAG:AG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs758657421
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 25, 2020 RCV000988259.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC27A4 - - GRCh38
GRCh37
54 96

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Ichthyosis prematurity syndrome
Allele origin: unknown
Mendelics
Accession: SCV001137913.1
Submitted: (Oct 22, 2019)
Evidence details
Likely pathogenic
(Mar 25, 2020)
criteria provided, single submitter
Method: clinical testing
Ichthyosis prematurity syndrome
Allele origin: germline
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
Accession: SCV001443697.1
Submitted: (Jul 31, 2020)
Evidence details
Comment:
This frameshifting variant in exon 13 of 13 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function … (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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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 rs758657421...

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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