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NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 20, 2020
Accession:
VCV001041647.1
Variation ID:
1041647
Description:
single nucleotide variant
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NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu)

Allele ID
1035398
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 153952957 (GRCh38) GRCh38 UCSC
X: 153218408 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.153218408G>A
NC_000023.11:g.153952957G>A
NG_012513.1:g.23412C>T
NM_005334.3:c.4499C>T MANE Select NP_005325.2:p.Pro1500Leu missense
Protein change
P1500L
Other names
-
Canonical SPDI
NC_000023.11:153952956:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs1277991321
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 20, 2020 RCV001345485.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HCFC1 - - GRCh38
GRCh37
356 604

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Apr 20, 2020)
criteria provided, single submitter
Method: clinical testing
Mental retardation 3, X-linked
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001539607.1
Submitted: (Jan 07, 2021)
Comment:
This sequence change replaces proline with leucine at codon 1500 of the HCFC1 protein (p.Pro1500Leu). The proline residue is highly conserved and there is a … (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 rs1277991321...

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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 Dec 29, 2021