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NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 12, 2020)
Last evaluated:
Jan 1, 2019
Accession:
VCV000982980.1
Variation ID:
982980
Description:
single nucleotide variant
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NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys)

Allele ID
971190
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 153960289 (GRCh38) GRCh38 UCSC
X: 153225740 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.153225740G>A
NC_000023.11:g.153960289G>A
NG_012513.1:g.16080C>T
NM_005334.3:c.1030C>T MANE Select NP_005325.2:p.Arg344Cys missense
Protein change
R344C
Other names
-
Canonical SPDI
NC_000023.11:153960288:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2065417308
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 Jan 1, 2019 RCV001262751.1
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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
(Jan 01, 2019)
criteria provided, single submitter
Method: clinical testing
Mental retardation 3, X-linked
Affected status: yes
Allele origin: unknown
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001440733.1
Submitted: (Oct 12, 2020)

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 rs2065417308...

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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