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NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 5, 2021)
Last evaluated:
Oct 5, 2019
Accession:
VCV000996880.1
Variation ID:
996880
Description:
single nucleotide variant
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NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys)

Allele ID
984621
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 153954669 (GRCh38) GRCh38 UCSC
X: 153220120 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.153220120G>A
NC_000023.11:g.153954669G>A
NG_012513.1:g.21700C>T
NM_005334.3:c.3730C>T MANE Select NP_005325.2:p.Arg1244Cys missense
Protein change
R1244C
Other names
-
Canonical SPDI
NC_000023.11:153954668:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
dbSNP: rs782155408
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 Oct 5, 2019 RCV001291690.1
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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
(Oct 05, 2019)
criteria provided, single submitter
Method: clinical testing
Mental retardation 3, X-linked
(X-linked inheritance)
Affected status: unknown
Allele origin: maternal
New York Genome Center
Study: CSER-NYCKidSeq
Accession: SCV001480272.1
Submitted: (Feb 05, 2021)
Comment:
The hemizyous, maternally inherited c.3730C>T (p.Arg1244Cys) variant identified in the HCFC1 gene substitutes a completely conserved Arginine for Cysteine at amino acid 1244/2036 (coding exon … (more)
Clinical Features:
Intellectual disability (yes) , Seizures (yes) , Cerebral palsy (yes)
Zygosity: 1 Hemizygote
Secondary finding: no

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 rs782155408...

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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